Current Appointments & Affiliations
Associate Professor of Biostatistics & Bioinformatics,
·
2019 - Present
Biostatistics & Bioinformatics, Division of Integrative Genomics,
Biostatistics & Bioinformatics
Associate Professor in Molecular Genetics and Microbiology
·
2017 - Present
Molecular Genetics and Microbiology,
Basic Science Departments
Associate Professor of Biomedical Engineering
·
2019 - Present
Biomedical Engineering,
Pratt School of Engineering
Recent Publications
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia.
Journal Article Am J Med Genet A · February 2025 Variation in the non-coding genome represents an understudied mechanism of disease and it remains challenging to predict if single nucleotide variants, small insertions and deletions, or structural variants in non-coding genomic regions will be detrimental ... Full text Link to item CiteAn Expanded Registry of Candidate cis-Regulatory Elements for Studying Transcriptional Regulation.
Journal Article bioRxiv · December 26, 2024 Mammalian genomes contain millions of regulatory elements that control the complex patterns of gene expression. Previously, The ENCODE consortium mapped biochemical signals across many cell types and tissues and integrated these data to develop a Registry ... Full text Link to item CiteBayesian Estimation of Allele-Specific Expression in the Presence of Phasing Uncertainty.
Journal Article bioRxiv · August 13, 2024 MOTIVATION: Allele-specific expression (ASE) analyses aim to detect imbalanced expression of maternal versus paternal copies of an autosomal gene. Such allelic imbalance can result from a variety of cis-acting causes, including disruptive mutations within ... Full text Link to item CiteRecent Grants
To support research on the development of CRISPR-based epigenome editing tools to refine genome wide association studies
ResearchCo Investigator · Awarded by Open Philanthropy Project · 2018 - 2027Deciphering the role of noncoding variation in the pathogenesis of multiple sclerosis
ResearchCo Investigator · Awarded by National Institute of Allergy and Infectious Diseases · 2021 - 2026Design, prediction, and prioritization of systematic perturbations of the human genome
ResearchCollaborator · Awarded by National Human Genome Research Institute · 2021 - 2026View All Grants
Education, Training & Certifications
Boston University ·
2007
Ph.D.