Loading...
Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Recently, we demonstrated that the qualitative American College of Medical Genetics and Genomics/ Association for Medical Pathology (ACMG/AMP) guidelines for evaluation of Mendelian disease gene variants are fundamentally compatible with a quantitative Bayesian formulation. Here, we show that the un...
Na minha lista:
| Udgivet i: | Hum Mutat |
|---|---|
| Main Authors: | , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2020
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8011844/ https://ncbi.nlm.nih.gov/pubmed/32720330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.24088 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|