At the University of Washington

  • Ovarian Cancer Screening
    Ultra-deep sequencing detects ovarian cancer cells in peritoneal fluid and reveals somatic TP53 mutations in noncancerous tissues.
    (2016) PNAS. Krimmel et. al. PMID: 27152024
  • DNA repair defects in Cockayne Syndrome
    Why Cockayne syndrome patients do not get cancer despite their DNA repair deficiency.
    (2016) PNAS. Reid-Bayliss et. al. PMID: 27543334
  • Drosophila mtDNA mutations in gametogenesis
    A mitochondrial DNA hypomorph of cytochrome oxidase specifically impairs male fertility in Drosophila melanogaster.
    (2016) Elife. Patel et. al. PMID: 27481326
  • Mitochondrial mutations in stem cells
    Decreased Mitochondrial Mutagenesis during Transformation of Human Breast Stem Cells into Tumorigenic Cells.
    (2016) Cancer Research. Ahn et. al. PMID: 27197159
  • mtDNA mutations in Alzheimer’s disease
    Mitochondrial DNA mutations increase in early stage Alzheimer disease and are inconsistent with oxidative damage.
    (2016) Ann. Neuro. Hoekstra et. al. PMID: 27315116
  • Efficient targeted capture with Duplex Sequencing
    Sequencing small genomic targets with high efficiency and extreme accuracy.
    (2015) Nature Methods. Schmitt et. al. PMID: 25849638
  • Parkinson’s Disease mouse model
    Endogenous Parkin Preserves Dopaminergic Substantia Nigral Neurons following Mitochondrial DNA Mutagenic Stress.
    (2015). Neuron. Pickrell et al. PMID: 26182419
  • Mitochondrial mutations in human stem cells
    Detection of Ultra-Rare Mitochondrial Mutations in Breast Stem Cells by Duplex Sequencing.
    (2015) PLOS One. Ahn et. al. PMID: 26305705
  • Published Duplex Sequencing protocol
    Detecting ultralow-frequency mutations by Duplex Sequencing.
    (2014) Nature Protocols. Kennedy et. al. PMID: 25299156
  • Mitochondrial mutations in aging
    Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage.
    (2013) PLOS Genetics. Kennedy et. al. PMID: 24086148
  • Original Duplex Sequencing description
    Detection of ultra-rare mutations by next-generation sequencing.
    (2012) PNAS. Schmitt et. al. PMID: 22853953

 

At the Massachusetts Institute of Technology

  • Mutational spectra of aflatoxin B1 in vivo establish biomarkers of exposure for human hepatocellular carcinoma
    (2017) PNAS. Chawanthayatham et. al. PMID: 28351974