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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

BACKGROUND: To facilitate the clinical implementation of genomic medicine by next-generation sequencing, it will be critically important to obtain accurate and consistent variant calls on personal genomes. Multiple software tools for variant calling are available, but it is unclear how comparable th...

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Bibliografiske detaljer
Main Authors: O'Rawe, Jason, Jiang, Tao, Sun, Guangqing, Wu, Yiyang, Wang, Wei, Hu, Jingchu, Bodily, Paul, Tian, Lifeng, Hakonarson, Hakon, Johnson, W Evan, Wei, Zhi, Wang, Kai, Lyon, Gholson J
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3706896/
https://ncbi.nlm.nih.gov/pubmed/23537139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gm432
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