A carregar...
Identification of Misclassified ClinVar Variants via Disease Population Prevalence
There is a significant interest in the standardized classification of human genetic variants. We used whole-genome sequence data from 10,495 unrelated individuals to contrast population frequency of pathogenic variants to the expected population prevalence of the disease. Analyses included the ACMG-...
Na minha lista:
| Publicado no: | Am J Hum Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5985337/ https://ncbi.nlm.nih.gov/pubmed/29625023 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.02.019 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|