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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2013
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Research
Accesso online: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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