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Janice Marie McCarthy

Medical Instructor in Biostatistics & Bioinformatics
Biostatistics & Bioinformatics, Division of Integrative Genomics
Duke Box 2721, Durham, NC 27710
2424 Erwin Road Ste 1102, 11075 Hock Plaza, Durham, NC 27705

Selected Publications

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.

Journal Article Am J Hum Genet · March 7, 2024 Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis a ... Full text Link to item Cite

A simple model for viral decay dynamics and the distribution of infected cell life spans in SHIV-infected infant rhesus macaques.

Journal Article Math Biosci · February 2023 The dynamics of HIV viral load following the initiation of antiretroviral therapy is not well-described by simple, single-phase exponential decay. Several mathematical models have been proposed to describe its more complex behavior, the most popular of whi ... Full text Link to item Cite

Focused goodness of fit tests for gene set analyses.

Journal Article Brief Bioinform · January 17, 2022 Gene set-based signal detection analyses are used to detect an association between a trait and a set of genes by accumulating signals across the genes in the gene set. Since signal detection is concerned with identifying whether any of the genes in the gen ... Full text Link to item Cite

Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses.

Journal Article Genet Epidemiol · June 2020 Gene-set analyses are used to assess whether there is any evidence of association with disease among a set of biologically related genes. Such an analysis typically treats all genes within the sets similarly, even though there is substantial, external, inf ... Full text Link to item Cite

Bridging the gaps: using an NHP model to predict single dose radiation absorption in humans.

Journal Article Int J Radiat Biol · January 2020 Purpose: Design and characterization of a radiation biodosimetry device are complicated by the fact that the requisite data are not available in the intended use population, namely humans exposed to a single, whole-body radiation dose. Instead, one must tu ... Full text Link to item Cite

Efficient estimation of grouped survival models.

Journal Article BMC Bioinformatics · May 28, 2019 BACKGROUND: Time- and dose-to-event phenotypes used in basic science and translational studies are commonly measured imprecisely or incompletely due to limitations of the experimental design or data collection schema. For example, drug-induced toxicities a ... Full text Link to item Cite

Robust analysis of secondary phenotypes in case-control genetic association studies.

Journal Article Stat Med · October 15, 2016 The case-control study is a common design for assessing the association between genetic exposures and a disease phenotype. Though association with a given (case-control) phenotype is always of primary interest, there is often considerable interest in asses ... Full text Link to item Cite

Exploiting expression patterns across multiple tissues to map expression quantitative trait loci.

Journal Article BMC Bioinformatics · June 24, 2016 BACKGROUND: In order to better understand complex diseases, it is important to understand how genetic variation in the regulatory regions affects gene expression. Genetic variants found in these regulatory regions have been shown to activate transcription ... Full text Link to item Cite

Testing for risk and protective trends in genetic analyses of HIV acquisition.

Journal Article Biostatistics · April 2015 Host genetics studies of HIV-1 acquisition are critically important for the identification of new targets for drug and vaccine development. Analyses of such studies typically focus on pairwise comparisons of three different groups: HIV-1 positive individua ... Full text Link to item Cite

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies.

Journal Article Genet Epidemiol · March 2015 Compound heterozygous mutations are mutations that occur on different copies of genes and may completely "knock-out" gene function. Compound heterozygous mutations have been implicated in a large number of diseases, but there are few statistical methods fo ... Full text Link to item Cite