Genomics

Dataset Information

294

Homo sapiens


ABSTRACT: Homo sapiens Exome

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA193293 | ENA |

REPOSITORIES: ENA

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Publications

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

O'Rawe Jason J   Jiang Tao T   Sun Guangqing G   Wu Yiyang Y   Wang Wei W   Hu Jingchu J   Bodily Paul P   Tian Lifeng L   Hakonarson Hakon H   Johnson W Evan WE   Wei Zhi Z   Wang Kai K   Lyon Gholson J GJ  

Genome medicine 20130327 3


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 these tools are or what their relative merits in real-world scenarios might be.We sequenced 15 exomes from four families using commercial kits (Illumina HiSeq 2000 platform and Agilent SureSelect version 2 capture  ...[more]

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