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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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Détails bibliographiques
Publié dans:BMC Genomics
Auteurs principaux: Zhou, Xin, Batzoglou, Serafim, Sidow, Arend, Zhang, Lu
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2018
Sujets:
Accès en ligne: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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