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Revisiting the morbid genome of Mendelian disorders
BACKGROUND: The pathogenicity of many Mendelian variants has been challenged by large-scale sequencing efforts. However, many rare and benign “disease mutations” are difficult to analyze due to their rarity. The Saudi Arabian variome is enriched for homozygosity due to inbreeding, a key advantage th...
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| Publicado en: | Genome Biol |
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| Autores principales: | , , , |
| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
BioMed Central
2016
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| Materias: | |
| Acceso en línea: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5123336/ https://ncbi.nlm.nih.gov/pubmed/27884173 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-016-1102-1 |
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