Variant detection sensitivity and biases in whole genome and exome sequencing

BACKGROUND: Less than two percent of the human genome is protein coding, yet that small fraction harbours the majority of known disease causing mutations. Despite rapidly falling whole genome sequencing (WGS) costs, much research and increasingly the clinical use of sequence data is likely to remain...

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Detalles Bibliográficos
Autores principales: Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122774/
https://www.ncbi.nlm.nih.gov/pubmed/25038816
http://dx.doi.org/10.1186/1471-2105-15-247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4122774/
https://www.ncbi.nlm.nih.gov/pubmed/25038816
http://dx.doi.org/10.1186/1471-2105-15-247

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