Article
WEP: a high-performance analysis pipeline for whole-exome data.
BMC bioinformatics - 1 Jan 2013
D'Antonio Mattia, D'Onorio De Meo Paolo, Paoletti Daniele, Elmi Berardino, Pallocca Matteo, Sanna Nico, Picardi Ernesto, Pesole Graziano, Castrignanò Tiziana
Abstract excerpt
BACKGROUND: The advent of massively parallel sequencing technologies (Next Generation Sequencing, NGS) profoundly modified the landscape of human genetics.In particular, Whole Exome Sequencing (WES) is the NGS branch that focuses on the exonic regions of the eukaryotic genomes; exomes are ideal to help us understanding high-penetrance allelic variation and its relationship to phenotype. A complete WES analysis...
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