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HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data

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...

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Опубликовано в: :BMC Genomics
Главные авторы: Zhou, Xin, Batzoglou, Serafim, Sidow, Arend, Zhang, Lu
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2018
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6006847/
https://ncbi.nlm.nih.gov/pubmed/29914369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-018-4867-7
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