1.
Biol Res
; 56(1): 42, 2023 Jul 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37468985
RESUMO
The human genome contains regions that cannot be adequately assembled or aligned using next generation short-read sequencing technologies. More than 2500 genes are known contain such 'dark' regions. In this study, we investigate the negative consequences of dark regions on gene discovery across a range of disease and study types, showing that dark regions are likely preventing researchers from identifying genetic variants relevant to human disease.