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A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations
Whole-exome sequencing (WES) is a useful method to identify disease-causing mutations, however, often no candidate mutations are identified using commonly available targeted probe sets. In a recent analysis, we also could not find candidate mutations for 20.9% (9/43) of our pedigrees with congenital...
Zapisane w:
| Wydane w: | Sci Rep |
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| Główni autorzy: | , , , , , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Nature Publishing Group
2015
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4365396/ https://ncbi.nlm.nih.gov/pubmed/25786579 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep09331 |
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