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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916453/
https://www.ncbi.nlm.nih.gov/pubmed/31847883
http://dx.doi.org/10.1186/s13073-019-0702-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6916453/
https://www.ncbi.nlm.nih.gov/pubmed/31847883
http://dx.doi.org/10.1186/s13073-019-0702-2

Ejemplares similares