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Article

ASEQ: fast allele-specific studies from next-generation sequencing data.

BMC medical genomics - 1 Mar 2015

Romanel Alessandro, Lago Sara, Prandi Davide, Sboner Andrea, Demichelis Francesca

Abstract excerpt

BACKGROUND: Single base level information from next-generation sequencing (NGS) allows for the quantitative assessment of biological phenomena such as mosaicism or allele-specific features in healthy and diseased cells. Such studies often present with computationally challenging burdens that hinder genome-wide investigations across large datasets that are now becoming available through the 1,000 Genomes Project...

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PMID: 25889339
DOI: 10.1186/s12920-015-0084-2
PMCID: PMC4363342

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