Article
HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data.
BMC genomics - 18 Jun 2018
Zhou Xin, Batzoglou Serafim, Sidow Arend, Zhang Lu
Abstract excerpt
BACKGROUND: De novo mutations (DNMs) are associated with neurodevelopmental and congenital diseases, and their detection can contribute to understanding disease pathogenicity. However, accurate detection is challenging because of their small number relative to the genome-wide false positives in next generation sequencing (NGS) data. Software such as DeNovoGear and TrioDeNovo have been developed to detect DNMs,...
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