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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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| 出版年: | BMC Genomics |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2018
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| 主題: | |
| オンライン･アクセス: | 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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