Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus coding genome), the mean numbers of single-nucleotide variants (SNVs) and small insertions/deletions (indels) detected per sample we...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Autores principales: Belkadi, Aziz, Bolze, Alexandre, Itan, Yuval, Cobat, Aurélie, Vincent, Quentin B., Antipenko, Alexander, Shang, Lei, Boisson, Bertrand, Casanova, Jean-Laurent, Abel, Laurent
Formato: Artigo
Lenguaje:Inglês
Publicado: National Academy of Sciences 2015
Materias:
Biological Sciences
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4418901/
https://ncbi.nlm.nih.gov/pubmed/25827230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1418631112
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