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The Number of Candidate Variants in Exome Sequencing for Mendelian Disease under No Genetic Heterogeneity
There has been recent success in identifying disease-causing variants in Mendelian disorders by exome sequencing followed by simple filtering techniques. Studies generally assume complete or high penetrance. However, there are likely many failed and unpublished studies due in part to incomplete pene...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Hindawi Publishing Corporation
2013
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3666419/ https://www.ncbi.nlm.nih.gov/pubmed/23762180 http://dx.doi.org/10.1155/2013/179761 |