Charles R. Farber

About

Charles R. Farber is a Professor in the Department of Genome Sciences at the University of Virginia School of Medicine. He holds a BS in Biochemistry from Western Kentucky University, an MS in Genetics from Michigan State University, and a PhD in Genetics from the University of California, Davis. His postdoctoral training was in Genetics at the University of California, Los Angeles. His research disciplines include Bioinformatics and Genomics, Biotechnology, Computational Biology, Genetics, Metabolism, and Molecular Biology. Farber's research interests focus on the systems genetics of skeletal development and maintenance. His work aims to understand the genetic basis of complex diseases such as osteoporosis, which pose significant societal health burdens. Utilizing technological advances like genome sequencing and high-throughput bioassays, his lab employs systems-biology approaches to investigate the molecular mechanisms underlying bone strength. This involves combining genetics and global gene expression profiling in mice to identify genes and pathways influencing bone-related traits, using techniques such as causality modeling and gene co-expression network analysis. His research also includes testing hypotheses through in vitro cell-based assays and transgenic mouse models.

Research topics

• Biology
• Genetics
• Medicine
• Internal medicine
• Endocrinology
• Computational biology
• Cell biology
• Computer Science
• Biochemistry
• Demography

Selected publications

• Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

  Nature · 2021 · 2261 citations

  . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion variants after alignment with the reference genome. Additional previously undescribed variants were detected through assembly of unmapped reads and customized analysis in highly variable loci. Among the more than 400 million detected variants, 97% have frequencies of less than 1% and 46% are singletons that are present in only one individual (53% among unrelated individuals). These…

  DOI

• Inherited causes of clonal haematopoiesis in 97,691 whole genomes

  Nature · 2020 · 726 citations

  DOI

• Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

  Nature Genetics · 2022 · 354 citations

  DOI

• De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population

  Proceedings of the National Academy of Sciences · 2020 · 110 citations

  ), which suggest that variation in DNM rate is significantly shaped by nonadditive genetic effects and the environment.

  DOI

• Whole genome sequence analysis of blood lipid levels in >66,000 individuals

  Nature Communications · 2022 · 73 citations

  Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly due to limited sample sizes, ancestral diversity, and interpretation of clinical significance. Among 66,329 ancestrally diverse (56% non-European) participants, we associate 428M variants from deep-coverage WGS with lipid levels; ~400M variants…

  DOI

Recent grants

• NIH Grant R56AR064790

  NIH · $677k · 2015

• Systems Genetics of Bone Regeneration

  NIH · $3.3M · 2022–2027

• Informing Osteoporosis GWAS Using Networks

  NIH · $2.8M · 2020–2026

Frequent coauthors

• Jerome I. Rotter

  UCLA Medical Center

  62 shared

• Stephen S. Rich

  57 shared

• Laura Almasy

  University of Pennsylvania

  50 shared

• Susan Redline

  Massachusetts General Hospital

  47 shared

• Stephen T. McGarvey

  Providence College

  44 shared

• Brian Custer

  Vitalant

  43 shared

• L. Adrienne Cupples

  Boston University

  41 shared

• Julie Mikulla

  National Heart Lung and Blood Institute

  41 shared

Education

• Postdoc, Medicine

  University of California Los Angeles

  2008

• PhD, Genetics

  University of California Davis

  2005

• MS, Genetics

  Michigan State University

  2000

• BS, Biochemistry

  Western Kentucky University

  1998

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