High number of candidate gene variants are identified as disease-causing in a period of 4 years.
Am J Med Genet A
; 194(5): e63509, 2024 05.
Article
en En
| MEDLINE
| ID: mdl-38158391
ABSTRACT
Advances in bioinformatic tools paired with the ongoing accumulation of genetic knowledge and periodic reanalysis of genomic sequencing data have led to an improvement in genetic diagnostic rates. Candidate gene variants (CGVs) identified during sequencing or on reanalysis but not yet implicated in human disease or associated with a phenotypically distinct condition are often not revisited, leading to missed diagnostic opportunities. Here, we revisited 33 such CGVs from our previously published study and determined that 16 of them are indeed disease-causing (novel or phenotype expansion) since their identification. These results emphasize the need to focus on previously identified CGVs during sequencing or reanalysis and the importance of sharing that information with researchers around the world, including relevant functional analysis to establish disease causality.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Biología Computacional
/
Genómica
Límite:
Humans
Idioma:
En
Revista:
Am J Med Genet A
/
Am. j. med. genet., Part A
/
American journal of medical genetics. Part A
Asunto de la revista:
GENETICA MEDICA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Estados Unidos