Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Motivation: Whole-exome sequencing (WES) has opened up previously unheard of possibilities for identifying novel disease genes in Mendelian disorders, only about half of which have been elucidated to date. However, interpretation of WES data remains challenging. Results: Here, we analyze protein–pro...

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Detalles Bibliográficos
Autores principales: Smedley, Damian, Köhler, Sebastian, Czeschik, Johanna Christina, Amberger, Joanna, Bocchini, Carol, Hamosh, Ada, Veldboer, Julian, Zemojtel, Tomasz, Robinson, Peter N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221119/
https://www.ncbi.nlm.nih.gov/pubmed/25078397
http://dx.doi.org/10.1093/bioinformatics/btu508

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221119/
https://www.ncbi.nlm.nih.gov/pubmed/25078397
http://dx.doi.org/10.1093/bioinformatics/btu508

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