Hakutulokset - Jason O'Rawe
- Näytetään 1 - 5 yhteensä 5 tuloksesta
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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing Tekijä 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
Julkaistu 2013Artigo -
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Indel variant analysis of short-read sequencing data with Scalpel Tekijä 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
Julkaistu 2016Artigo -
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TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations Tekijä 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
Julkaistu 2015Artigo
Työkalut:
Liittyvät aiheet
Biology
Gene
Genetics
Genotype
Single-nucleotide polymorphism
Computational biology
Indel
Mutation
Computer science
Exome sequencing
1000 Genomes Project
Concordance
DNA sequencing
Exome
Genome
INDEL Mutation
Bioinformatics
Gene expression
Gene knockdown
Genomics
Hypotonia
Intellectual disability
Phenotype
Proband
Promoter
Reference genome
TAF1
Whole genome sequencing
Zebrafish