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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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| Publicat a: | BMC Genomics |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
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| Matèries: | |
| Accés en línia: | 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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