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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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| Publié dans: | BMC Genomics |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2018
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| 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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