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Underdiagnosis of monogenic heart and vascular diseases

Through performing whole-exome sequencing (WES), researchers have found that diagnoses for monogenic cardiovascular diseases (MCVDs) may have previously been missed. […]

Penetrance in monogenic metabolic conditions

Researchers have used exome sequencing data from 77,184 individuals to generate penetrance estimates and assess the utility of polygenic variation […]

Moving Polygenic Risk Scores into the Clinic

Genetic testing is widely used to diagnose monogenic diseases that are caused by mutations in a single gene, such as […]

A Spotlight On: Polygenic Embryo Screening – Dr. Todd Lencz, Professor at the Feinstein Institutes for Medical Research

Dr Todd Lencz is a Professor at the Feinstein Institutes for Medical Research in Manhasset, New York. Lencz’s team were […]

Genome Giants: Heidi Rehm – Chief Genomics Officer, Mass General Hospital

Heidi Rehm is the Chief Genomics Officer in the Department of Medicine and at the Center for Genomic Medicine at […]

Indigenous Genomic Data Needed for Equitable Expanded Carrier Screening:

Pre-conception Expanded Carrier Screening is a technology that uses whole genome sequencing to screen prospective parents as potential carriers of […]

World of Genomics: Ecuador

Home to five UNESCO heritage sites, Ecuador is a country of rich cultural heritage and exceptionally diverse wildlife. It has […]

World of Genomics: Czechia

World of Genomics: Czechia In this week’s World of Genomics, we’re off to Czechia, also known as the Czech Republic. […]

Curing misconceptions: where do genomics myths come from?

Genomics has, perhaps more than any other field, been plagued by misconceptions. From oversimplified explanations in high school biology classes […]

Researchers discover new genetic associations with chronic kidney disease

In a recent study published in Nature Communications, researchers identified new rare variants and genes associated with chronic kidney disease. […]