Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...

Genetic variation underpins the diversity observed within and among species, while genomic analysis provides the framework to unravel the complexity of these variations. Advances in high‐throughput ...

According to a recent AHA Scientific Statement, despite ongoing limitations, recent advances in genomic sequencing ...

June 14, 2010 — Individuals diagnosed with autism spectrum disorders (ASDs) have nearly 20% more gene copy number variations (CNVs) overall and more than 60% more CNVs in genes associated with ...

Several genetic variations were recovered in individuals during remission compared to those in active disease. Recovered features included reduction of plasma and cell cycle signatures and increase of ...

Clinicians' ability to diagnose and treat chronic diseases is limited by scientific uncertainty around factors contributing to disease risk. A study published September 2 nd in the open-access journal ...

Researchers have demonstrated a specific type of genetic variation in obsessive-compulsive disorder (OCD) for the first time using advanced DNA sequencing technology. The findings support previous ...

Unprecedented genome analysis ties brain structure variations to genetic risks for Parkinson’s disease and ADHD, offering new treatment possibilities. Study: Genomic analysis of intracranial and ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

One of the most detailed 3D maps of how the human chromosomes are organized and folded within a cell's nucleus is published ...