Kelly Frazer

About

Dr. Kelly A. Frazer is an internationally renowned leader in the field of genome biology and medicine. She serves as the director of the UC San Diego Institute for Genomic Medicine and is the founding chief of the Division of Genome Information Sciences in the Department of Pediatrics at UC San Diego. Her leadership roles highlight her significant contributions to advancing genomic research and its applications in medicine.

Research topics

• Biology
• Genetics
• Computational biology
• Cell biology

Selected publications

• Systematic analysis of binding of transcription factors to noncoding variants

  Nature · 2021 · 174 citations

  DOI

• Enhancer release and retargeting activates disease-susceptibility genes

  Nature · 2021 · 150 citations

  DOI

• Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants

  Nature Communications · 2020 · 133 citations

  Senior authorCorresponding

  The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell types. Here, using gene expression signatures obtained from mouse cell types, we deconvolute bulk RNA-seq samples from 28 GTEx tissues to quantify cellular composition, which reveals striking heterogeneity across these samples. Conducting eQTL an…

  DOI

• High resolution long-read telomere sequencing reveals dynamic mechanisms in aging and cancer

  Nature Communications · 2024-06-18 · 58 citations

  articleOpen access

  Telomeres are the protective nucleoprotein structures at the end of linear eukaryotic chromosomes. Telomeres' repetitive nature and length have traditionally challenged the precise assessment of the composition and length of individual human telomeres. Here, we present Telo-seq to resolve bulk, chromosome arm-specific and allele-specific human telomere lengths using Oxford Nanopore Technologies' native long-read sequencing. Telo-seq resolves telomere shortening in five population doubling increm…

  PublisherOA PDFDOI

• Single-nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

  Developmental Cell · 2023-10-16 · 43 citations

  articleOpen access
  PublisherOA PDFDOI

Recent grants

• NIH Grant R44HG002638

  NIH · $2.0M · 2005

• Fine-mapping and functional analysis of T1D-associated variants

  NIH · $3.3M · 2016–2021

• Cancer Control Program

  NIH · $40.3M · 1996–2031

Frequent coauthors

• Erin N. Smith

  Takeda (United States)

  185 shared

• Hiroko Matsui

  University of California, San Diego

  103 shared

• Matteo D’Antonio

  101 shared

• Olivier Harismendy

  78 shared

• Teri A. Manolio

  National Institutes of Health

  67 shared

• Agnieszka D’Antonio‐Chronowska

  University of California, San Diego

  67 shared

• Daniel J. Rader

  University of Pennsylvania

  67 shared

• Marc S. Williams

  Wirral University Teaching Hospital NHS Foundation Trust

  66 shared

Labs

• Frazer LabPI

  Not provided

Education

• Ph.D., Genomics

  University of California, San Diego

  1996

• M.S., Genetics

  University of California, San Diego

  1992

• B.S., Genetics

  University of California, San Diego

  1989

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