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 However, there are likely many failed and unpublished studies due in part to incomplete pene...

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Detalles Bibliográficos
Autores principales: Nishino, Jo, Mano, Shuhei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Research Article
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

Internet

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

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