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Search results for: Monogenic Diseases

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: Sweden

In our latest World of Genomics piece, we are heading to Sweden – a Nordic country famous for its breath-taking […]

A Spotlight On: Genomic drivers of heart attacks – Akl Fahed

Akl Fahed, MD, MPH is a physician, scientist, and innovator. He works at Mass General Hospital, the Broad Institute of […]

A Spotlight On: Genomics in Qatar – Said Ismail, Director of Qatar Genome

Said Ismail is the Director of Qatar Genome, a national programme trying to spearhead Qatar’s vision to become a pioneer […]

World of Genomics: Australia

Known for wild landscapes and distinctive wildlife, Australia is one of the largest countries in the world. Australia has a […]