Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering

Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after filtering the hundreds of variants on WES from an individual’s DNA selected b...

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Detalles Bibliográficos
Autores principales: Daud, Daniyal, Griffin, Helen, Douroudis, Konstantinos, Kleinle, Stephanie, Eglon, Gail, Pyle, Angela, Chinnery, Patrick F., Horvath, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503877/
https://www.ncbi.nlm.nih.gov/pubmed/25957632
http://dx.doi.org/10.1007/s00415-015-7755-y

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