Identifying patients and assessing variant pathogenicity for an autosomal dominant disease-driving gene.
STAR Protoc
; 3(1): 101150, 2022 03 18.
Article
em En
| MEDLINE
| ID: mdl-35146449
ABSTRACT
Identifying a disease gene and determining its causality in patients can be challenging. Here, we present an approach to predicting the pathogenicity of deletions and missense variants for an autosomal dominant gene. We provide online resources for identifying patients and determining constraint metrics to isolate the causal gene among several candidates encompassed in a shared region of deletion. We also provide instructions for optimizing functional annotation programs that may be otherwise inaccessible to a nonexpert or novice in computational approaches. For complete details on the use and execution of this protocol, please refer to Gennarino et al. (2018).
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Genes Dominantes
/
Doenças Genéticas Inatas
Limite:
Humans
Idioma:
En
Revista:
STAR Protoc
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Estados Unidos