William H. Majoros

Statistical and Applied Mathematical Sciences Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

30h-index23.7kcitations76works7.02yr avg
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Research Topics

Genomics and Phylogenetic Studies(22), RNA and protein synthesis mechanisms(21), Genomics and Chromatin Dynamics(14), RNA Research and Splicing(11), Machine Learning in Bioinformatics(10)

Publications74 total

The IGVF catalog—from genetic variation to function
Nucleic Acids Research·2025· 3 citedOpen Access
The architecture of allele-specific regulatory variant effects across five human genomes
2025
Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX
Genetics in Medicine Open·2025Open Access
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
UNC Libraries·2025Open Access
Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX
2025Open Access
Bayesian estimation of allele-specific expression in the presence of phasing uncertainty
Bioinformatics·2025· 1 citedOpen Access
Characterization and bioinformatic filtering of ambient gRNAs in single-cell CRISPR screens using CLEANSER
Cell Genomics·2025· 4 citedOpen Access
Promoter Deletion Leading to Allele Specific Expression in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
American Journal of Medical Genetics Part A·2024Open Access
Characterization and bioinformatic filtering of ambient gRNAs in single-cell CRISPR screens using CLEANSER
2024· 2 citedOpen Access
Bayesian Estimation of Allele-Specific Expression in the Presence of Phasing Uncertainty
2024Open Access
Full-length dystrophin restoration via targeted exon integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy
Molecular Therapy·2021· 62 citedOpen Access
Targeted long-read sequencing identifies missing disease-causing variation
The American Journal of Human Genetics·2021· 228 citedOpen Access
Correcting signal biases and detecting regulatory elements in STARR-seq data
Genome Research·2021· 22 citedOpen Access
Detecting regulatory elements in high-throughput reporter assays
bioRxiv (Cold Spring Harbor Laboratory)·2020
Evaluating Chromatin Accessibility Differences Across Multiple Primate Species Using a Joint Modeling Approach
Genome Biology and Evolution·2019· 15 citedOpen Access
Bayesian estimation of genetic regulatory effects in high-throughput reporter assays
Bioinformatics·2019· 4 citedOpen Access
Evaluating chromatin accessibility differences across multiple primate species using a joint modelling approach
2019Open Access
Human genome-wide measurement of drug-responsive regulatory activity
Nature Communications·2018· 56 citedOpen Access
Glucocorticoid receptor recruits to enhancers and drives activation by motif-directed binding
Genome Research·2018· 124 citedOpen Access
Pre-established Chromatin Interactions Mediate the Genomic Response to Glucocorticoids
Cell Systems·2018· 108 citedOpen Access
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Frequent Co-authors

Timothy E. Reddy(13), Steven L. Salzberg(11), Uwe Ohler(11), Andrew S. Allen(9), Charles A. Gersbach(8), Mark Yandell(7), Gregory E. Crawford(7), Alejandro Barrera(7), Mihaela Pertea(6), Jennifer R. Wortman(5), Alexias Safi(5), Christopher M. Vockley(5), Arthur L. Delcher(4), Anthony D’Ippolito(4), Ian C. McDowell(4), Robert A. Holt(3), Aaron L. Halpern(3), Ron Wides(3), Cheryl Evans(3), Jian Wang(3)