Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases

BACKGROUND: Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death. Yet, many cases remain undiagnosed. Here, we report the added diagnostic yield achieved for 101 WES cases re-an...

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Vydáno v:Genome Med
Hlavní autoři: Salfati, Elias L., Spencer, Emily G., Topol, Sarah E., Muse, Evan D., Rueda, Manuel, Lucas, Jonathan R., Wagner, Glenn N., Campman, Steven, Topol, Eric J., Torkamani, Ali
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2019
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6916453/
https://ncbi.nlm.nih.gov/pubmed/31847883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-019-0702-2
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