translating genomics to the clinic (selected publications)

 

 


Rentzsch et al. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Research (2019)
PMID: 30371827
(with Kircher Lab)
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Findlay et al. Accurate classification of BRCA1 variants with saturation genome editing. Nature (2018)
PMID: 30209399
(with Starita Lab)
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Starita et al. Variant Interpretation: Functional Assays to the Rescue. AJHG (2017)
PMID: 28886340
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Underhill et al. Fragment Length of Circulating Tumor DNA. PLoS Genetics (2016)
PMID: 27428049
(with Underhill Lab)
PDF

 

 


Snyder, Kircher et al. Cell-free DNA Comprises an In Vivo Nucleosome Footprint that Informs Its Tissues-Of-Origin. Cell (2016)
PMID: 26771485
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Fields & Shendure. Massively Parallel Genetics. Genetics (2016)
PMID: 27270695
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Starita et al. Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. Genetics (2015)
PMID: 25823446
(with Fields Lab)
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Snyder, Simmons et al. Copy-Number Variation and False Positive Prenatal Aneuploidy Screening Results. New England Journal of Medicine (2015)
PMID: 25830323
(with Gammill Lab)
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Salipante, Roach et al. Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains. Genome Research (2014)
PMID: 25373147
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Kumar et al. Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes. Genome Biology (2014)
PMID: 25608559
(with Rostomily Lab)
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Kircher, Witten et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics (2014)
PMID: 24487276
(with Cooper Lab)
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Snyder et al. Noninvasive fetal genome sequencing: a primer. Prenatal Diagnosis (2013)
PMID: 23553552
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Kohane & Shendure. What's a Genome Worth? Science Translational Medicine (2012)
PMID: 22572879
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Cooper & Shendure. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data. Nature Reviews Genetics (2011)
PMID: 21850043
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