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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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| Publicado no: | J Neurol |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4503877/ https://ncbi.nlm.nih.gov/pubmed/25957632 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-015-7755-y |
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