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A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

BACKGROUND: Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants (CNVs) from ES data due to several reasons relat...

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Bibliografiske detaljer
Udgivet i:Genome Med
Main Authors: Rajagopalan, Ramakrishnan, Murrell, Jill R., Luo, Minjie, Conlin, Laura K.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6993336/
https://ncbi.nlm.nih.gov/pubmed/32000839
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-0712-0
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