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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706896/
https://www.ncbi.nlm.nih.gov/pubmed/23537139
http://dx.doi.org/10.1186/gm432

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706896/
https://www.ncbi.nlm.nih.gov/pubmed/23537139
http://dx.doi.org/10.1186/gm432

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