Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

The genetic roots of a disease or disorder do not always grow into clear-cut, easily diagnosed clinical features. Even if a parent and child have the same genetic marker implicated in an outcome, such ...

New research helps explain why disease-associated genetic variants can lead to variable clinical outcomes, influenced both by the patterns of secondary variants, or genetic background, and by how ...

Rare diseases (RD) are more common than you might think. For every 20 people you know, one is likely affected by a rare disease. Of the 7,000 known RD conditions, 80% have a genetic origin, yet over ...

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 ...

DNA sequencing is a set of laboratory methods for determining the precise linear order of nucleotides (A, C, G, T) in a DNA molecule. Core methodological classes include Sanger sequencing, which uses ...

Roche has put forward a new approach to genetic analysis, which it describes as sequencing-by-expansion—a proprietary method that pulls apart the DNA molecule and amplifies the signal of each ...

In a manuscript published today in the American Journal of Psychiatry titled Long-Read Genome Sequencing in Clinical Psychiatry: RFX3 Haploinsufficiency in a Hospitalized Adolescent With Autism, ...

Miami University’s Center for Bioinformatics and Functional Genomics (CBFG) has become one of the first institutions in the region to acquire the PacBio VEGA Benchtop System — a cutting-edge DNA ...

Newborn babies admitted to the hospital's neonatal intensive care unit (NICU) rely on the quick decisions and rapid action of the medical team responsible for them. DNA testing is critical to ...