Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes
Variants causing loss of function (LoF) of human genes have clinical implications. Here, the authors present a method to predict disease-causing potential of LoF variants, ALoFT (annotation of Loss-of-Function Transcripts) and show its application to interpreting LoF variants in different contexts.
Enregistré dans:
| Auteurs principaux: | , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2017
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/fa612e5114724713a9157e555a8858b1 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|