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A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data
MOTIVATION: Next generation sequencing technology considerably changed the way we screen for pathogenic mutations in rare Mendelian disorders. However, the identification of the disease-causing mutation amongst thousands of variants of partly unknown relevance is still challenging and efficient tech...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5408770/ https://www.ncbi.nlm.nih.gov/pubmed/27565584 http://dx.doi.org/10.1093/bioinformatics/btw550 |