Effective variant filtering and expected candidate variant yield in studies of rare human disease
Abstract In studies of families with rare disease, it is common to screen for de novo mutations, as well as recessive or dominant variants that explain the phenotype. However, the filtering strategies and software used to prioritize high-confidence variants vary from study to study. In an effort to...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/709f6f141917434d9d3529666fde6ab7 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|