Richard A. Gibbs

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

195h-index341.9kcitations1.3kworks14.92yr avg
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Research Topics

Genomics and Rare Diseases(204), Genomic variations and chromosomal abnormalities(130), Genomics and Phylogenetic Studies(126), Cancer Genomics and Diagnostics(117), Genetic Associations and Epidemiology(99)

Publications1.3k total

Benchmarking of duplex sequencing approaches to reveal somatic mutation landscapes
2025Open Access
Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkers
UNC Libraries·2025Open Access
GREGoR: accelerating genomics for rare diseases
Nature·2025· 6 citedOpen Access
Constellation illuminates rare disease genetics
2025Open Access
Comprehensive benchmarking of somatic single-nucleotide variant and indel detection at ultra-low allele fractions using short- and long-read data
2025· 1 citedOpen Access
Population-scale Long-read Sequencing in the All of Us Research Program
2025· 1 citedOpen Access
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
UNC Libraries·2025Open Access
Association of genetic scores related to insulin resistance with neurological outcomes in ancestrally diverse cohorts from the Trans-Omics for Precision Medicine (TOPMed) program
Communications Biology·2025Open Access
The Earth BioGenome Project Phase II: illuminating the eukaryotic tree
2025
Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals
Genome biology·2025· 1 citedOpen Access
Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia
Human Genetics and Genomics Advances·2025Open Access
Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes
2025· 3 citedOpen Access
The Somatic Mosaicism across Human Tissues Network
Nature·2025· 28 citedOpen Access
Complete genomic characterization of global pathogens respiratory syntical virus and human norovirus using probe based capture enrichment
Scientific Reports·2025· 1 citedOpen Access
Whole genome sequence association analysis of brain structural volume measures in the NHLBI TOPMed Program highlights novel loci in diverse participants
2025Open Access
The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region
2025· 1 citedOpen Access
Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkers
Cell Reports Medicine·2025· 1 citedOpen Access
The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions
npj Microgravity·2025· 1 citedOpen Access
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
The American Journal of Human Genetics·2025· 4 citedOpen Access
Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load
PLoS ONE·2025Open Access
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Frequent Co-authors

Donna M. Muzny(23), George M. Weinstock(17), David A. Wheeler(15), Kim C. Worley(11), Stacey Gabriel(10), Elaine R. Mardis(8), Lora Lewis(8), Erica Sodergren(8), Paul Flicek(7), Richard K. Wilson(7), Eric Boerwinkle(7), Alicia Hawes(7), Robert S. Fulton(7), Fuli Yu(7), David Altshuler(6), David Bentley(6), Evan E. Eichler(6), Charles Lee(6), Yi Han(6), Christie Kovar(6)