When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding ...

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...

Profiling noncoding repetitive RNA sequences improves the sensitivity of liquid biopsy diagnostic tests for early stage cancers. As cancer is most treatable in its early stages, developing diagnostic ...

NGS enables the in-depth analysis of the genome and the identification and investigation of disease-associated variants–especially when workflows include target enrichment, which focuses on specific ...

Scientists at the Baylor College of Medicine and collaborating institutions used complementary approaches that integrate exome sequencing and evolutionary action machine learning to identify protein ...