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Global inference of disease-causing single nucleotide variants from exome sequencing data

BACKGROUND: Whole exome sequencing (WES) has recently emerged as an effective approach for identifying genetic variants underlying human diseases. However, considerable time and labour is needed for careful investigation of candidate variants. Although filtration based on population frequencies and...

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Bibliografiske detaljer
Udgivet i:BMC Bioinformatics
Main Authors: Wu, Mengmeng, Chen, Ting, Jiang, Rui
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5260102/
https://ncbi.nlm.nih.gov/pubmed/28155632
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12859-016-1325-x
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