VarWatch-A stand-alone software tool for variant matching.

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...

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Bibliographic Details
Main Authors: Broder Fredrich, Marcus Schmöhl, Olaf Junge, Sven Gundlach, David Ellinghaus, Arne Pfeufer, Thomas Bettecken, Roman Siddiqui, Andre Franke, Thomas F Wienker, Marc P Hoeppner, Michael Krawczak
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0215618

Internet

https://doi.org/10.1371/journal.pone.0215618

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