Hoarding disorder is often described as if it might be “caused” by a single errant chromosome, but the trajectory of genetic research, from early linkage ...

Accurate RNA splicing is essential for gene expression and human health, yet predicting how DNA sequence variations affect ...

Researchers from The University of Texas MD Anderson Cancer Center demonstrated that an artificial intelligence (AI)-based ...

Predictive biomarkers remain a key foundation of personalized medicine, enabling the identification of patients most likely ...

At Baylor Genetics, we believe the biggest leap forward for rare disease diagnosis will happen when WGS becomes the standard ...

I knew I had to try to find him. Two weeks (and two vials of spit) later, I got my results—and I already had a lead.

Bionano Genomics, Inc. (Nasdaq: BNGO) today announced that studies featuring optical genome mapping (OGM) at the 2026 European Society of Human Genetics (ESHG) conference grew substantially compared ...

Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality. CHD often has a genetic cause, and recent studies demonstrate the utility of genetic testing. In ...

Daniel Combs, MD, is an Assistant Professor of Pediatrics and Medicine at the University of Arizona. Clinical signs raise suspicion for Prader-Willi syndrome (PWS), but genetic testing confirms it.

After a decade of clinical assessments failed to meet DSM-5 criteria, a chromosomal microarray revealed the genetic truth behind a complex neurodevelopmental presentation. This question addresses a ...

We report a family with X-linked ichthyosis (XLI), in which the non-invasive prenatal testing (NIPT) results from the pregnant woman revealed a deletion of approximately 2 Mb at Xp22.31, confirmed by ...