Genetic research uncovers a continuum between diabetes forms, offering insights for precision medicine. Study: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the ...

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 ...

Germline non-BRCA1/2 mutations and clinico-radio-pathologic features of early-onset breast cancer patients in Thailand. Genetic counseling (GC) in the era of next generation sequencing (NGS) to ...

Transcribe, splice, and everything’s nice—at least in healthy people. Scientists are finding that abnormal splicing, and genetic variants that cause it, may kickstart some neurodegenerative diseases.

Associations between metabolic syndrome-related diseases and colorectal cancer risk: A propensity score-matched analysis using the NIH All of Us research program. This is an ASCO Meeting Abstract from ...

BROOKLYN, N.Y.--(BUSINESS WIRE)--CMP Scientific, a leader in capillary electrophoresis-mass spectrometry (CE-MS) technologies, is proud to announce the launch of its highly anticipated BioSummit™ CVA ...

Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK ...

Scientists have found that a special component in some people's blood provides them with natural protection against malaria. A recent study has demonstrated that a genetic variant named rs112233623-T ...

Adeno-associated viral (AAV) gene therapy products, which contain a DNA transgene packaged into a protein capsid, have shown tremendous therapeutic potential in recent years for a range of diseases.