VarWatch—A stand-alone software tool for variant matching

Massively parallel DNA sequencing of clinical samples holds great promise for the gene-based diagnosis of human inherited diseases because it allows rapid detection of putatively causative mutations at genome-wide level. Without additional evidence complementing their initial bioinformatics evaluati...

詳細記述

保存先:
書誌詳細
出版年:PLoS One
主要な著者: Fredrich, Broder, Schmöhl, Marcus, Junge, Olaf, Gundlach, Sven, Ellinghaus, David, Pfeufer, Arne, Bettecken, Thomas, Siddiqui, Roman, Franke, Andre, Wienker, Thomas F., Hoeppner, Marc P., Krawczak, Michael
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2019
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6483337/
https://ncbi.nlm.nih.gov/pubmed/31022234
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0215618
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