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...

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Detalles Bibliográficos
Autores principales: Rödelsperger, Christian, Krawitz, Peter, Bauer, Sebastian, Hecht, Jochen, Bigham, Abigail W., Bamshad, Michael, de Condor, Birgit Jonske, Schweiger, Michal R., Robinson, Peter N.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Original Papers
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

Internet

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

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