GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

Mendelian rare genetic diseases affect 5%–10% of the population, and with over 5300 genes responsible for ∼7000 different diseases, they are challenging to diagnose. The use of whole‐genome sequencing (WGS) has bolstered the diagnosis rate significantly. The effective use of WGS relies on the abilit...

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Detalles Bibliográficos
Autores principales: Richmond, Phillip A., Av‐Shalom, Tamar V., Fornes, Oriol, Modi, Bhavi, Elliott, Alison M., Wasserman, Wyeth W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Informatics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247879/
https://www.ncbi.nlm.nih.gov/pubmed/33368787
http://dx.doi.org/10.1002/humu.24163

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247879/
https://www.ncbi.nlm.nih.gov/pubmed/33368787
http://dx.doi.org/10.1002/humu.24163

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