High-Throughput Nucleotide Sequencing
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Subject Areas on Research
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A Flexible, Efficient Binomial Mixed Model for Identifying Differential DNA Methylation in Bisulfite Sequencing Data.
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A Method to Target and Isolate Airway-innervating Sensory Neurons in Mice.
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A Model Information Management Plan for Molecular Pathology Sequence Data Using Standards: From Sequencer to Electronic Health Record.
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A Possible Sterilizing Cure of HIV-1 Infection Without Stem Cell Transplantation.
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A cloud-compatible bioinformatics pipeline for ultrarapid pathogen identification from next-generation sequencing of clinical samples.
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A comparison of sequencing platforms and bioinformatics pipelines for compositional analysis of the gut microbiome.
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A compositional look at the human gastrointestinal microbiome and immune activation parameters in HIV infected subjects.
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A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.
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A deep sequencing approach to estimate Plasmodium falciparum complexity of infection (COI) and explore apical membrane antigen 1 diversity.
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A framework phylogeny of the American oak clade based on sequenced RAD data.
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A genetic variant in the APE1/Ref-1 gene promoter -141T/G may modulate risk of glioblastoma in a Chinese Han population.
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A genome-wide analysis of open chromatin in human tracheal epithelial cells reveals novel candidate regulatory elements for lung function.
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A global reference for human genetic variation.
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A high frequency of activating extracellular domain ERBB2 (HER2) mutation in micropapillary urothelial carcinoma.
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A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutation.
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A new method to accurately identify single nucleotide variants using small FFPE breast samples.
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A refined cell-of-origin classifier with targeted NGS and artificial intelligence shows robust predictive value in DLBCL.
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A survey of plant and algal genomes and transcriptomes reveals new insights into the evolution and function of the cellulose synthase superfamily.
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A tiling-deletion-based genetic screen for cis-regulatory element identification in mammalian cells.
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ASH1L Links Histone H3 Lysine 36 Dimethylation to MLL Leukemia.
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Abscisic acid regulates root elongation through the activities of auxin and ethylene in Arabidopsis thaliana.
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Absence of putative artemisinin resistance mutations among Plasmodium falciparum in Sub-Saharan Africa: a molecular epidemiologic study.
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Accuracy of mutational signature software on correlated signatures.
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Adaptation and selection shape clonal evolution of tumors during residual disease and recurrence.
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Advanced urothelial carcinoma: next-generation sequencing reveals diverse genomic alterations and targets of therapy.
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Advancing the functional utility of PAR-CLIP by quantifying background binding to mRNAs and lncRNAs.
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An Atypical Myelomonocytic Cell Infiltrate: Use of Next-Generation Sequencing to Diagnose Indeterminate Cell Histiocytosis.
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An Automated High-throughput Array Microscope for Cancer Cell Mechanics.
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An evaluation of copy number variation detection tools from whole-exome sequencing data.
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An integrative model of pathway convergence in genetically heterogeneous blast crisis chronic myeloid leukemia.
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Analyses of transcriptome sequences reveal multiple ancient large-scale duplication events in the ancestor of Sphagnopsida (Bryophyta).
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Analysis of transcriptome complexity through RNA sequencing in normal and failing murine hearts.
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Antigen receptor repertoire profiling from RNA-seq data.
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Aquacultured rainbow trout (Oncorhynchus mykiss) possess a large core intestinal microbiota that is resistant to variation in diet and rearing density.
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Assessing the utility of whole genome amplified DNA for next-generation molecular ecology.
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Association of CD8(+) T lymphocyte repertoire spreading with the severity of DRESS syndrome.
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Associations of osteopontin and NT-proBNP with circulating miRNA levels in acute coronary syndrome.
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Automated next-generation profiling of genomic alterations in human cancers.
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Benchmarking DNA isolation kits used in analyses of the urinary microbiome.
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Benchmarking association analyses of continuous exposures with RNA-seq in observational studies.
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Benchmarking ultra-high molecular weight DNA preservation methods for long-read and long-range sequencing.
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Bimodal quantitative relationships between histone modifications for X-linked and autosomal loci.
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Block-diagonal discriminant analysis and its bias-corrected rules.
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Building evidence and measuring clinical outcomes for genomic medicine.
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CANEapp: a user-friendly application for automated next generation transcriptomic data analysis.
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CMV reactivation drives posttransplant T-cell reconstitution and results in defects in the underlying TCRβ repertoire.
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CRISPR Library Screening in Cultured Cardiomyocytes.
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CRISPR-Cas9 epigenome editing enables high-throughput screening for functional regulatory elements in the human genome.
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CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
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Cancer Informatics: New Tools for a Data-Driven Age in Cancer Research.
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Cell-free DNA diagnostics in transplantation utilizing next generation sequencing.
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Cell-internalization SELEX: method for identifying cell-internalizing RNA aptamers for delivering siRNAs to target cells.
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ChIP-seq guidelines and practices of the ENCODE and modENCODE consortia.
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Characterization of metastatic urothelial carcinoma via comprehensive genomic profiling of circulating tumor DNA.
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Chromatin accessibility reveals insights into androgen receptor activation and transcriptional specificity.
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Circular RNAs are abundant, conserved, and associated with ALU repeats.
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Clinical Decision Making: Integrating Advances in the Molecular Understanding of Spine Tumors.
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Clinical Outcomes and Patient-Matched Molecular Composition of Relapsed Medulloblastoma.
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Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
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Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 2: Pluridisciplinary perspective on their genetic and molecular origins.
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Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.
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CloneRetriever: An Automated Algorithm to Identify Clonal B and T Cell Gene Rearrangements by Next-Generation Sequencing for the Diagnosis of Lymphoid Malignancies.
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Commentary: Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
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Comparative analysis of the genome sequences and replication profiles of chikungunya virus isolates within the East, Central and South African (ECSA) lineage.
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Comparative evaluation of a new magnetic bead-based DNA extraction method from fecal samples for downstream next-generation 16S rRNA gene sequencing.
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Comparative genomics provides new insights into the diversity, physiology, and sexuality of the only industrially exploited tremellomycete: Phaffia rhodozyma.
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Comparing reference-based RNA-Seq mapping methods for non-human primate data.
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Comparison of liquid-based to tissue-based biopsy analysis by targeted next generation sequencing in advanced non-small cell lung cancer: a comprehensive systematic review.
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Comparison of seven methods for DNA extraction from prosomata of the acorn barnacle, Amphibalanus amphitrite.
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Complete vertebrate mitogenomes reveal widespread repeats and gene duplications.
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Complexity of Delivering Precision Medicine: Opportunities and Challenges.
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Comprehensive Genomic Profiling of Metastatic Tumors in a Phase 2 Biomarker Study of Everolimus in Advanced Renal Cell Carcinoma.
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Comprehensive genomic profiling of relapsed and metastatic adenoid cystic carcinomas by next-generation sequencing reveals potential new routes to targeted therapies.
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Comprehensive serial molecular profiling of an "N of 1" exceptional non-responder with metastatic prostate cancer progressing to small cell carcinoma on treatment.
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Computational approaches for inferring 3D conformations of chromatin from chromosome conformation capture data.
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Copy number variation contributes to cryptic genetic variation in outbreak lineages of Cryptococcus gattii from the North American Pacific Northwest.
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Correcting signal biases and detecting regulatory elements in STARR-seq data.
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Correlation of Long-term Results of Imatinib in Advanced Gastrointestinal Stromal Tumors With Next-Generation Sequencing Results: Analysis of Phase 3 SWOG Intergroup Trial S0033.
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Cystic fibrosis carrier screening using next generation sequencing: A cautionary tale.
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DNA Sequence Recognition by DNA Primase Using High-Throughput Primase Profiling.
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DO-RIP-seq to quantify RNA binding sites transcriptome-wide.
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features.
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De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
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Deep Sequencing of 71 Candidate Genes to Characterize Variation Associated with Alcohol Dependence.
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Deep Sequencing of Influenza A Virus from a Human Challenge Study Reveals a Selective Bottleneck and Only Limited Intrahost Genetic Diversification.
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Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses.
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Deep sequencing of the small RNA transcriptome of normal and malignant human B cells identifies hundreds of novel microRNAs.
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Deep whole-genome sequencing of 100 southeast Asian Malays.
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Deep-RACE: Comprehensive Search for Novel ncRNAs Associated to a Specific Locus.
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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
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Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.
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Depression in pregnancy, infant birth weight and DNA methylation of imprint regulatory elements.
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Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
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Detection of differentially abundant cell subpopulations in scRNA-seq data.
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Detection of m6A in single cultured cells using scDART-seq.
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Development and validation of a scalable next-generation sequencing system for assessing relevant somatic variants in solid tumors.
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Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing.
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Direct-from-blood RNA sequencing identifies the cause of post-bronchoscopy fever.
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Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature.
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Drug-Resistance and Population Structure of Plasmodium falciparum Across the Democratic Republic of Congo Using High-Throughput Molecular Inversion Probes.
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Earth BioGenome Project: Sequencing life for the future of life.
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EchinoDB, an application for comparative transcriptomics of deeply-sampled clades of echinoderms.
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Efficient and specific gene knockdown by small interfering RNAs produced in bacteria.
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Efficient purging of deleterious mutations in plants with haploid selfing.
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Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia.
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Evaluation of the Vitek MS v3.0 Matrix-Assisted Laser Desorption Ionization-Time of Flight Mass Spectrometry System for Identification of Mycobacterium and Nocardia Species.
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Exome sequencing detection of two untranslated GFPT1 mutations in a family with limb-girdle myasthenia.
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Exome sequencing identifies somatic gain-of-function PPM1D mutations in brainstem gliomas.
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Exome sequencing reveals recurrent REV3L mutations in cisplatin-resistant squamous cell carcinoma of head and neck.
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Exome/Genome Sequencing in Undiagnosed Syndromes.
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Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C.
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Extensive recombination due to heteroduplexes generates large amounts of artificial gene fragments during PCR.
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External Quality Assessment Program for Next-Generation Sequencing-Based HIV Drug Resistance Testing: Logistical Considerations.
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External Quality Assessment for Next-Generation Sequencing-Based HIV Drug Resistance Testing: Unique Requirements and Challenges.
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Extracellular vesicles from endometriosis patients are characterized by a unique miRNA-lncRNA signature.
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False positives in multiplex PCR-based next-generation sequencing have unique signatures.
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Family history assessment significantly enhances delivery of precision medicine in the genomics era.
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Fast Dissemination of New HIV-1 CRF02/A1 Recombinants in Pakistan.
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Focused evolution of HIV-1 neutralizing antibodies revealed by structures and deep sequencing.
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Frequent Mutations of POT1 Distinguish Pulmonary Sarcomatoid Carcinoma From Other Lung Cancer Histologies.
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Full Spectrum of LPS Activation in Alveolar Macrophages of Healthy Volunteers by Whole Transcriptomic Profiling.
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Functional interrogation and mining of natively paired human VH:VL antibody repertoires.
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GNAS and KRAS Mutations Define Separate Progression Pathways in Intraductal Papillary Mucinous Neoplasm-Associated Carcinoma.
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Gene expression changes in a tumor xenograft by a pyrrole-imidazole polyamide.
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General olfactory sensitivity database (GOSdb): candidate genes and their genomic variations.
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Generating RNA Baits for Capture-Based Enrichment.
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Genetic Characterization of a Panel of Diverse HIV-1 Isolates at Seven International Sites.
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Genetic Dissection of Heritable Traits in Yeast Using Bulk Segregant Analysis.
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Genetic convergence of rare lymphomas.
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Genetic dissection of interspecific differences in yeast thermotolerance.
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Genetic variability of the U5 and downstream sequence of major HIV-1 subtypes and circulating recombinant forms.
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Genome accessibility is widely preserved and locally modulated during mitosis.
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Genome diversity in Brachypodium distachyon: deep sequencing of highly diverse inbred lines.
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Genome sequencing of SHH medulloblastoma predicts genotype-related response to smoothened inhibition.
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Genome-wide localization of replication factors.
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Genome-wide quantification of the effects of DNA methylation on human gene regulation.
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Genomic alterations in head and neck squamous cell carcinoma determined by cancer gene-targeted sequencing.
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Genomic landscapes of breast fibroepithelial tumors.
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Genomic sequencing is required for identification of tuberculosis transmission in Hawaii.
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Genotypic analysis of the V3 region of HIV from virologic nonresponders to maraviroc-containing regimens reveals distinct patterns of failure.
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Germline genetic landscape of pediatric central nervous system tumors.
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Germline mutations in HOXB13 and prostate-cancer risk.
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Global impact of RNA splicing on transcriptome remodeling in the heart.
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Haplotype-resolved assembly of diploid genomes without parental data.
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High quality methylome-wide investigations through next-generation sequencing of DNA from a single archived dry blood spot.
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High-Throughput Analysis of Heteroduplex DNA in Mitotic Recombination Products.
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High-Throughput Mapping of B Cell Receptor Sequences to Antigen Specificity.
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High-Throughput Profiling of Extrachromosomal Linear DNAs of Long Terminal Repeat Retrotransposons by ALE-seq.
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High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.
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High-fat diet induced leptin and Wnt expression: RNA-sequencing and pathway analysis of mouse colonic tissue and tumors.
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High-resolution deep sequencing reveals biodiversity, population structure, and persistence of HIV-1 quasispecies within host ecosystems.
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High-resolution genome-wide analysis of irradiated (UV and γ-rays) diploid yeast cells reveals a high frequency of genomic loss of heterozygosity (LOH) events.
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High-throughput genome sequencing of lichenizing fungi to assess gene loss in the ammonium transporter/ammonia permease gene family.
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Highly Parallel Genome-wide Expression Profiling of Individual Cells Using Nanoliter Droplets.
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Histone modifications and chromatin organization in prostate cancer.
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Host lifestyle affects human microbiota on daily timescales.
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Human cardiac cis-regulatory elements, their cognate transcription factors, and regulatory DNA sequence variants.
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Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus).
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Identification of Brassinosteroid Target Genes by Chromatin Immunoprecipitation Followed by High-Throughput Sequencing (ChIP-seq) and RNA-Sequencing.
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Identification of a novel germline SPOP mutation in a family with hereditary prostate cancer.
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Identifying gene expression from single cells to single genes.
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Immune checkpoint blockade as a potential therapeutic target: surveying CNS malignancies.
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Impact of Conditioning Intensity of Allogeneic Transplantation for Acute Myeloid Leukemia With Genomic Evidence of Residual Disease.
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Impact of bioinformatic procedures in the development and translation of high-throughput molecular classifiers in oncology.
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Implementation of a Molecular Tumor Registry to Support the Adoption of Precision Oncology Within an Academic Medical Center: The Duke University Experience.
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Implications of the first complete human genome assembly.
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Improved transcript isoform discovery using ORF graphs.
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In vivo RNA editing of point mutations via RNA-guided adenosine deaminases.
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In-depth analysis of the interaction of HIV-1 with cellular microRNA biogenesis and effector mechanisms.
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Infection complications in febrile chimeric antigen receptor (CAR)-T recipients during the peri-CAR-T cell treatment period examined using metagenomic next-generation sequencing (mNGS).
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Integrative molecular profiling of routine clinical prostate cancer specimens.
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Kernel canonical correlation analysis for assessing gene-gene interactions and application to ovarian cancer.
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Living laboratory: whole-genome sequencing as a learning healthcare enterprise.
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Long-term stability of microbiome diversity and composition in fecal samples stored in eNAT medium.
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Mapping and characterization of structural variation in 17,795 human genomes.
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Mapping nucleosome positions using DNase-seq.
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Mapping the genetic architecture of human traits to cell types in the kidney identifies mechanisms of disease and potential treatments.
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Massively parallel quantification of the regulatory effects of noncoding genetic variation in a human cohort.
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Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel.
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Maximizing ecological and evolutionary insight in bisulfite sequencing data sets.
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Medical oncologists' perspectives of the Veterans Affairs National Precision Oncology Program.
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Merfin: improved variant filtering, assembly evaluation and polishing via k-mer validation.
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Metatranscriptomic analysis of ectomycorrhizal roots reveals genes associated with Piloderma-Pinus symbiosis: improved methodologies for assessing gene expression in situ.
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Mining the antibodyome for HIV-1-neutralizing antibodies with next-generation sequencing and phylogenetic pairing of heavy/light chains.
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Missing genetic risk in neural tube defects: can exome sequencing yield an insight?
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Mitigating SOX2-potentiated Immune Escape of Head and Neck Squamous Cell Carcinoma with a STING-inducing Nanosatellite Vaccine.
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Molecular Profiling to Determine Clonality of Serial Magnetic Resonance Imaging/Ultrasound Fusion Biopsies from Men on Active Surveillance for Low-Risk Prostate Cancer.
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Molecular Testing of Nodules with a Suspicious or Malignant Cytologic Diagnosis in the Setting of Non-Invasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features (NIFTP).
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Molecular and genetic biomarkers implemented from next-generation sequencing provide treatment insights in clinical practice for Waldenström macroglobulinemia.
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Molecular pathology of prostate cancer revealed by next-generation sequencing: opportunities for genome-based personalized therapy.
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Molecular profiling of activated olfactory neurons identifies odorant receptors for odors in vivo.
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Morphologic correlates of molecular alterations in extrauterine Müllerian carcinomas.
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Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy.
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Multiregion ultra-deep sequencing reveals early intermixing and variable levels of intratumoral heterogeneity in colorectal cancer.
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Mutational profiling of therapy-related myelodysplastic syndromes and acute myeloid leukemia by next generation sequencing, a comparison with de novo diseases.
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Nanopore Flongle Sequencing as a Rapid, Single-Specimen Clinical Test for Fusion Detection.
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Neptune: an environment for the delivery of genomic medicine.
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New clues to the molecular pathogenesis of Burkitt lymphoma revealed through next-generation sequencing.
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New routes to targeted therapy of intrahepatic cholangiocarcinomas revealed by next-generation sequencing.
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Next generation multilocus sequence typing (NGMLST) and the analytical software program MLSTEZ enable efficient, cost-effective, high-throughput, multilocus sequencing typing.
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Next generation sequencing and tumor mutation profiling: are we ready for routine use in the oncology clinic?
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Next-Generation Sequencing Concordance Analysis of Comprehensive Solid Tumor Profiling between a Centralized Specialty Laboratory and the Decentralized Personal Genome Diagnostics elio Tissue Complete Kitted Solution.
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Next-Generation Sequencing of Minimal Residual Disease for Predicting Relapse after Tisagenlecleucel in Children and Young Adults with Acute Lymphoblastic Leukemia.
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Next-generation genotyping of hypervariable loci in many individuals of a non-model species: technical and theoretical implications.
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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
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Next-generation sequencing not superior to culture in periprosthetic joint infection diagnosis.
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Next-generation sequencing of apoptotic DNA breakpoints reveals association with actively transcribed genes and gene translocations.
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Next-generation sequencing of the human olfactory receptors.
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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.
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Novel enriched pathways in superficial malignant peripheral nerve sheath tumours and spindle/desmoplastic melanomas.
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Novel insights into the genetics and epigenetics of MALT lymphoma unveiled by next generation sequencing analyses.
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Oncoprotein AEG-1 is an endoplasmic reticulum RNA-binding protein whose interactome is enriched in organelle resident protein-encoding mRNAs.
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Open chromatin mapping identifies transcriptional networks regulating human epididymis epithelial function.
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Optimization of the Solubility of HIV-1-Neutralizing Antibody 10E8 through Somatic Variation and Structure-Based Design.
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Oral microbiome diversity in chimpanzees from Gombe National Park.
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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
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Outcomes by Clinical and Molecular Features in Children With Medulloblastoma Treated With Risk-Adapted Therapy: Results of an International Phase III Trial (SJMB03).
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Overlap Extension Barcoding for the Next Generation Sequencing and Genotyping of Plasmodium falciparum in Individual Patients in Western Kenya.
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PARalyzer: definition of RNA binding sites from PAR-CLIP short-read sequence data.
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PD-L1 expression is low in large B-cell lymphoma with MYC or double-hit translocation.
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POT1 mutation spectrum in tumour types commonly diagnosed among POT1-associated hereditary cancer syndrome families.
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Pan-cancer analysis of whole genomes.
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Performance of a high-throughput next-generation sequencing method for analysis of HIV drug resistance and viral load.
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Pervasive Effects of Aging on Gene Expression in Wild Wolves.
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Polymorphisms and evolutionary history of retrotransposon insertions in rice promoters.
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Pooled deep sequencing of Plasmodium falciparum isolates: an efficient and scalable tool to quantify prevailing malaria drug-resistance genotypes.
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Poor Immunogenicity, Not Vaccine Strain Egg Adaptation, May Explain the Low H3N2 Influenza Vaccine Effectiveness in 2012-2013.
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Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies.
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Post-transcriptional regulation of transcript abundance by a conserved member of the tristetraprolin family in Candida albicans.
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Prevalence of hepatitis B antiviral drug resistance variants in North American patients with chronic hepatitis B not receiving antiviral treatment.
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Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas.
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Pseudouridines have context-dependent mutation and stop rates in high-throughput sequencing.
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Quantifying RNA binding sites transcriptome-wide using DO-RIP-seq.
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Quantitative modeling of transcription factor binding specificities using DNA shape.
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RNA aptamer-based functional ligands of the neurotrophin receptor, TrkB.
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RNA-guided gene activation by CRISPR-Cas9-based transcription factors.
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Rapid identification of cell-specific, internalizing RNA aptamers with bioinformatics analyses of a cell-based aptamer selection.
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Rare HIV-1 transmitted/founder lineages identified by deep viral sequencing contribute to rapid shifts in dominant quasispecies during acute and early infection.
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Rare-variant collapsing analyses for complex traits: guidelines and applications.
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Re-annotation of the woodland strawberry (Fragaria vesca) genome.
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Real-Time Genomic Profiling of Pancreatic Ductal Adenocarcinoma: Potential Actionability and Correlation with Clinical Phenotype.
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Reconstructing genome evolution in historic samples of the Irish potato famine pathogen.
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Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development.
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Reducing mitochondrial reads in ATAC-seq using CRISPR/Cas9.
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Regeneration of cortical tissue from brain injury by implantation of defined molecular gradient of semaphorin 3A.
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Renal Amyloidosis in Deficiency of Adenosine Deaminase 2: Successful Experience With Canakinumab.
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Replication of the Escherichia coli chromosome in RNase HI-deficient cells: multiple initiation regions and fork dynamics.
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Results and Clinical Utilization of Foundation Medicine Molecular Tumor Profiling in Uterine and Ovarian Cancers.
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Ribonucleotides in DNA: hidden in plain sight.
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RoboCOP: jointly computing chromatin occupancy profiles for numerous factors from chromatin accessibility data.
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SLICER: inferring branched, nonlinear cellular trajectories from single cell RNA-seq data.
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SMRT Sequencing for Parallel Analysis of Multiple Targets and Accurate SNP Phasing.
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SNP-skimming: A fast approach to map loci generating quantitative variation in natural populations.
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Scalable Open Science Approach for Mutation Calling of Tumor Exomes Using Multiple Genomic Pipelines.
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Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.
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Search for microRNAs expressed by intracellular bacterial pathogens in infected mammalian cells.
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Semi-automated assembly of high-quality diploid human reference genomes.
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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
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Sequence-Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in ADA2.
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Simple and inexpensive ribosome profiling analysis of mRNA translation.
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Single-Cell RNA Sequencing Identifies Yes-Associated Protein 1-Dependent Hepatic Mesothelial Progenitors in Fibrolamellar Carcinoma.
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Single-Cell-Based High-Throughput Ig and TCR Repertoire Sequencing Analysis in Rhesus Macaques.
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Single-cell RNA-seq reveals TOX as a key regulator of CD8+ T cell persistence in chronic infection.
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Small Cell Lung Cancer Exhibits Frequent Inactivating Mutations in the Histone Methyltransferase KMT2D/MLL2: CALGB 151111 (Alliance).
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Specific eukaryotic plankton are good predictors of net community production in the Western Antarctic Peninsula.
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Sperm DNA methylation altered by THC and nicotine: Vulnerability of neurodevelopmental genes with bivalent chromatin.
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Spreading of X chromosome inactivation via a hierarchy of defined Polycomb stations.
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
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Statistical analysis of variability in TnSeq data across conditions using zero-inflated negative binomial regression.
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Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates podocyte oxidative stress and endocytosis.
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Streamlined Subpopulation, Subtype, and Recombination Analysis of HIV-1 Half-Genome Sequences Generated by High-Throughput Sequencing.
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Stress-system genes and life stress predict cortisol levels and amygdala and hippocampal volumes in children.
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Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation.
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Sympatric parallel diversification of major oak clades in the Americas and the origins of Mexican species diversity.
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TCR Repertoires of Thymic Conventional and Regulatory T Cells: Identification and Characterization of Both Unique and Shared TCR Sequences.
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TRPV1 temperature activation is specifically sensitive to strong decreases in amino acid hydrophobicity.
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Targeted Genome Sequencing Identifies Multiple Rare Variants in Caveolin-1 Associated with Obstructive Sleep Apnea.
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Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
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Targeted long-read sequencing identifies missing disease-causing variation.
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Targeted next generation sequencing identifies clinically actionable mutations in patients with melanoma.
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Temporal and regional variability in the skin microbiome of humpback whales along the Western Antarctic Peninsula.
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Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls.
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The Cryptococcus neoformans transcriptome at the site of human meningitis.
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The Current Molecular Treatment Landscape of Advanced Colorectal Cancer and Need for the COLOMATE Platform.
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The ErbB2ΔEx16 splice variant is a major oncogenic driver in breast cancer that promotes a pro-metastatic tumor microenvironment.
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The HOXB13 variant X285K is associated with clinical significance and early age at diagnosis in African American prostate cancer patients.
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The Human Pangenome Project: a global resource to map genomic diversity.
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The Influenza B Virus Hemagglutinin Head Domain Is Less Tolerant to Transposon Mutagenesis than That of the Influenza A Virus.
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The Molecular Analysis for Therapy Choice (NCI-MATCH) Trial: Lessons for Genomic Trial Design.
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The NEXT-1 (Next generation pErsonalized tX with mulTi-omics and preclinical model) trial: prospective molecular screening trial of metastatic solid cancer patients, a feasibility analysis.
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The Populus holobiont: dissecting the effects of plant niches and genotype on the microbiome.
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The Prognostic and Therapeutic Value of the Mutational Profile of Blood and Tumor Tissue in Head and Neck Squamous Cell Carcinoma.
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The birth of the Epitranscriptome: deciphering the function of RNA modifications.
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The challenge and promise of estimating the de novo mutation rate from whole-genome comparisons among closely related individuals.
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The draft genome of tropical fruit durian (Durio zibethinus).
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The extent and genetic basis of phenotypic divergence in life history traits in Mimulus guttatus.
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The genetic landscape of anaplastic astrocytoma.
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The genetics of neuropsychiatric diseases: looking in and beyond the exome.
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The human olfactory transcriptome.
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The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases.
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The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes.
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The rise of genomic profiling in ovarian cancer.
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The statistics of bulk segregant analysis using next generation sequencing.
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The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
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These Are the Genes You're Looking For: Finding Host Resistance Genes.
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Toward clinical genomics in everyday medicine: perspectives and recommendations.
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Towards Quantitative Microbiome Community Profiling Using Internal Standards.
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Transcription-associated mutation of lasR in Pseudomonas aeruginosa.
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Transcriptional Profiling of CD8+ CMV-Specific T Cell Functional Subsets Obtained Using a Modified Method for Isolating High-Quality RNA From Fixed and Permeabilized Cells.
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Transcriptome analysis of cortical tissue reveals shared sets of downregulated genes in autism and schizophrenia.
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Trav15-dv6 family Tcrd rearrangements diversify the Tcra repertoire.
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Treatment of steroid-resistant nephrotic syndrome in the genomic era.
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Tumor Heterogeneity and Therapeutic Resistance.
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VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.
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Verification of systems biology research in the age of collaborative competition.
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What are people willing to pay for whole-genome sequencing information, and who decides what they receive?
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When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy.
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Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis.
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Whole genome re-sequencing to identify suppressor mutations of mutant and foreign Escherichia coli FtsZ.
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
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Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.
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Whole-genome duplication and molecular evolution in Cornus L. (Cornaceae) - Insights from transcriptome sequences.
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Whole-genome reconstruction and mutational signatures in gastric cancer.
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bcSeq: an R package for fast sequence mapping in high-throughput shRNA and CRISPR screens.
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cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.
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Keywords of People
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Hartemink, Alexander J.,
Professor in the Department of Computer Science,
Biology
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Jawahar, Jay,
Student,
Molecular Genetics and Microbiology
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Luftig, Micah Alan,
Professor of Molecular Genetics and Microbiology,
Cell Biology
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Reddy, Timothy E,
Associate Professor of Biostatistics & Bioinformatics,,
Molecular Genetics and Microbiology
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Rentas, Stefanos,
Assistant Professor of Pathology,
Pathology
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Swain Lenz, Devi,
Research Scientist,
Biology