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Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants
De novo genetic variants are an important source of causative variation in complex genetic disorders. Many methods for variant discovery rely on mapping reads to a reference genome, detecting numerous inherited variants irrelevant to the phenotype of interest. To distinguish between inherited and de...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6682328/ https://www.ncbi.nlm.nih.gov/pubmed/31377530 http://dx.doi.org/10.1016/j.isci.2019.07.032 |