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Detection of rare disease variants in extended pedigrees using RVS
SUMMARY: Family-based sequencing studies enable researchers to identify highly penetrant genetic variants too rare to be tested in conventional case-control studies, by studying co-segregation of variant and disease phenotypes. When multiple affected subjects in a family are sequenced, the probabili...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612888/ https://www.ncbi.nlm.nih.gov/pubmed/30500888 http://dx.doi.org/10.1093/bioinformatics/bty976 |