Guidelines for investigating causality of sequence variants in human disease.
Nature
; 508(7497): 469-76, 2014 Apr 24.
Article
in En
| MEDLINE
| ID: mdl-24759409
ABSTRACT
The discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Genetic Variation
/
Disease
/
Guidelines as Topic
/
Genetic Predisposition to Disease
Type of study:
Etiology_studies
/
Guideline
Limits:
Humans
Language:
En
Journal:
Nature
Year:
2014
Document type:
Article
Affiliation country:
Estados Unidos