RESUMEN

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.

Asunto(s)

Genoma Humano , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Genoma Humano/genética , Análisis de Secuencia de ADN