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HAT: de novo variant calling for highly accurate short-read and long-read sequencing data
MOTIVATION: de novo variant (DNV) calling is challenging from parent-child sequenced trio data. We developed Hare And Tortoise (HAT) to work as an automated workflow to detect DNVs in highly accurate short-read and long-read sequencing data. Reliable detection of DNVs is important for human genetics...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900919/ https://www.ncbi.nlm.nih.gov/pubmed/36747667 http://dx.doi.org/10.1101/2023.01.27.525940 |