Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants-Reference-Cited by-同舟云学术

Evaluating the Calling Performance of a Rare Disease NGS Panel for Single Nucleotide and Copy Number Variants

Published:2017-03-13 Issue:3 Volume:21 Page:303-313
ISSN:1177-1062
Container-title:Molecular Diagnosis & Therapy
language:en
Short-container-title:Mol Diagn Ther

Author:

Cacheiro P.,Ordóñez-Ugalde A.,Quintáns B.,Piñeiro-Hermida S.,Amigo J.,García-Murias M.,Pascual-Pascual S. I.,Grandas F.,Arpa J.,Carracedo A.,Sobrido M. J.

Funder

Instituto de Salud Carlos III

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology,Genetics,Molecular Medicine,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s40291-017-0268-x.pdf

Reference48 articles.

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4. O’Rawe J, Jiang T, Sun G, et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med. 2013;5:28.

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