A genome-wide spectrum of tandem repeat expansions in 338,963 humans.
Cell
; 187(9): 2336-2341.e5, 2024 Apr 25.
Article
em En
| MEDLINE
| ID: mdl-38582080
ABSTRACT
The Genome Aggregation Database (gnomAD), widely recognized as the gold-standard reference map of human genetic variation, has largely overlooked tandem repeat (TR) expansions, despite the fact that TRs constitute â¼6% of our genome and are linked to over 50 human diseases. Here, we introduce the TR-gnomAD (https//wlcb.oit.uci.edu/TRgnomAD), a biobank-scale reference of 0.86 million TRs derived from 338,963 whole-genome sequencing (WGS) samples of diverse ancestries (39.5% non-European samples). TR-gnomAD offers critical insights into ancestry-specific disease prevalence using disparities in TR unit number frequencies among ancestries. Moreover, TR-gnomAD is able to differentiate between common, presumably benign TR expansions, which are prevalent in TR-gnomAD, from those potentially pathogenic TR expansions, which are found more frequently in disease groups than within TR-gnomAD. Together, TR-gnomAD is an invaluable resource for researchers and physicians to interpret TR expansions in individuals with genetic diseases.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Genoma Humano
/
Sequências de Repetição em Tandem
Limite:
Humans
Idioma:
En
Revista:
Cell
Ano de publicação:
2024
Tipo de documento:
Article