Søgeresultater - Steven N. Hart
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Bioinformatics for Clinical Next Generation Sequencing af Gavin R. Oliver, Steven N. Hart, Eric W. Klee
Udgivet 2014Revisão -
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Organizational preparedness for the use of large language models in pathology informatics af Steven N. Hart, Noah G. Hoffman, Peter Gershkovich, Chancey Christenson, David S. McClintock, Lauren J. Miller, Ronald Jackups, Vahid Azimi, Nicholas C. Spies, Victor Brodsky
Udgivet 2023Revisão -
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Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls af Jenna Lilyquist, Holly LaDuca, Eric C. Polley, Brigette Tippin Davis, Hermela Shimelis, Chunling Hu, Steven N. Hart, Jill S. Dolinsky, Fergus J. Couch, David E. Goldgar
Udgivet 2017Artigo -
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Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients af Chunling Hu, Steven N. Hart, William R. Bamlet, Raymond M. Moore, Kannabiran Nandakumar, Bruce W. Eckloff, Yean Kee Lee, Gloria M. Petersen, Robert R. McWilliams, Fergus J. Couch
Udgivet 2015Artigo -
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The Contribution of Germline Predisposition Gene Mutations to Clinical Subtypes of Invasive Breast Cancer From a Clinical Genetic Testing Cohort af Chunling Hu, Eric C. Polley, Siddhartha Yadav, Jenna Lilyquist, Hermela Shimelis, Jie Na, Steven N. Hart, David E. Goldgar, Swati Shah, Tina Pesaran, Jill S. Dolinsky, Holly LaDuca, Fergus J. Couch
Udgivet 2020Artigo -
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Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States af Susan M. Domchek, Song Yao, Fei Chen, Chunling Hu, Steven N. Hart, David E. Goldgar, Katherine L. Nathanson, Christine B. Ambrosone, Christopher A. Haiman, Fergus J. Couch, Eric C. Polley, Julie R. Palmer
Udgivet 2021Artigo -
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models af Steven N. Hart, Tanya L. Hoskin, Hermela Shimelis, Raymond M. Moore, Bing Feng, Abigail Thomas, Noralane M. Lindor, Eric C. Polley, David E. Goldgar, Edwin S. Iversen, Álvaro N.A. Monteiro, Vera J. Suman, Fergus J. Couch
Udgivet 2018Artigo -
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Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes af Chunling Hu, Holly LaDuca, Hermela Shimelis, Eric C. Polley, Jenna Lilyquist, Steven N. Hart, Jie Na, Abigail Thomas, Kun Y. Lee, Brigette Tippin Davis, Mary Helen Black, Tina Pesaran, David E. Goldgar, Jill S. Dolinsky, Fergus J. Couch
Udgivet 2018Artigo -
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Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance af Marcy E. Richardson, Chunling Hu, Kun Y. Lee, Holly LaDuca, Kelly Fulk, Kate Durda, Ashley Deckman, David E. Goldgar, Álvaro N.A. Monteiro, Rohan Gnanaolivu, Steven N. Hart, Eric C. Polley, Elizabeth Chao, Tina Pesaran, Fergus J. Couch
Udgivet 2021Artigo -
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PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data af Chen Wang, Jared M. Evans, Aditya Bhagwate, Naresh Prodduturi, Vivekananda Sarangi, Mridu Middha, Hugues Sicotte, Peter T. Vedell, Steven N. Hart, Gavin R. Oliver, Jean‐Pierre Kocher, Matthew J. Maurer, Anne J. Novak, Susan L. Slager, James R. Cerhan, Yan W. Asmann
Udgivet 2014Artigo
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Cancer
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Breast cancer
Germline mutation
Computer science
Germline
PALB2
CHEK2
Computational biology
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Environmental health
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Ovarian cancer
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