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Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders
Motivation: Next-generation sequencing and exome-capture technologies are currently revolutionizing the way geneticists screen for disease-causing mutations in rare Mendelian disorders. However, the identification of causal mutations is challenging due to the sheer number of variants that are identi...
| Autores principales: | , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3051326/ https://www.ncbi.nlm.nih.gov/pubmed/21278187 http://dx.doi.org/10.1093/bioinformatics/btr022 |