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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Detalhes bibliográficos
Publicado no:Genome Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha: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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