検索結果 - Jason O'Rawe

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  1. 1
    Reducing INDEL calling errors in whole genome and exome sequencing data

    Reducing INDEL calling errors in whole genome and exome sequencing data 著者: Han Fang, Yiyang Wu, Giuseppe Narzisi, Jason O'Rawe, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Ivan Iossifov, Michael C. Schatz, Gholson J. Lyon

    出版事項 2014
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    Artigo
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  2. 2
    Accurate de novo and transmitted indel detection in exome-capture data using microassembly

    Accurate de novo and transmitted indel detection in exome-capture data using microassembly 著者: Giuseppe Narzisi, Jason O'Rawe, Ivan Iossifov, Han Fang, Yoon-ha Lee, Zihua Wang, Yiyang Wu, Gholson J. Lyon, Michael Wigler, Michael C. Schatz

    出版事項 2014
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    Artigo
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  3. 3
    Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

    Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing 著者: Jason O'Rawe, Tao Jiang, Guangqing Sun, Yiyang Wu, Wei Wang, Jingchu Hu, Paul Bodily, Lifeng Tian, Hákon Hákonarson, W. Evan Johnson, Zhi Wei, Kai Wang, Gholson J. Lyon

    出版事項 2013
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    Artigo
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  4. 4
    Indel variant analysis of short-read sequencing data with Scalpel

    Indel variant analysis of short-read sequencing data with Scalpel 著者: Han Fang, Ewa A. Bergmann, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason O'Rawe, Yiyang Wu, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J. Lyon, Michael Wigler, Michael C. Schatz, Giuseppe Narzisi

    出版事項 2016
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    Artigo
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  5. 5
    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

    TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations 著者: Jason O'Rawe, Yiyang Wu, Max J. Dörfel, Alan F. Rope, Ping Yee Billie Au, Jillian S. Parboosingh, Sungjin Moon, Maria Kousi, Konstantina Kosma, Christopher Smith, Maria Tzetis, Jane L. Schuette, Robert B. Hufnagel, Carlos E. Prada, Francisco Martı́nez, Carmen Orellana, Jonathan Crain, Alfonso Caro‐Llopis, Silvestre Oltra, Sandra Monfort, Laura T. Jiménez-Barrón, Jeffrey Swensen, Sara Ellingwood, Rosemarie Smith, Han Fang, Sandra Ospina, Alexander P.A. Stegmann, Nicolette S. den Hollander, David Mittelman, Gareth Highnam, Reid Robison, Edward Yang, Laurence Faivre, Agathe Roubertie, Jean‐Baptiste Rivière, Kristin G. Monaghan, Kai Wang, Erica E. Davis, Nicholas Katsanis, Vera M. Kalscheuer, Edith H. Wang, Kay Metcalfe, Tjitske Kleefstra, A. Micheil Innes, Sophia Kitsiou‐Tzeli, Mónica Roselló, Catherine E. Keegan, Gholson J. Lyon

    出版事項 2015
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    Artigo
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