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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 […]

Polygenic background modifies penetrance of monogenic variants

Researchers have found that polygenic background can modify penetrance of disease in tier 1 genomic conditions. Monogenic variants Monogenic variants […]

Translating Germline Cancer Genomics into Precision Prevention of Cancer

It is well known that early detection and monitoring of cancer greatly improves patient prognosis. However, specific interventions are only […]

Many pathogenic genetic variants carry low risk of disease

The team behind a new study has found that many pathogenic genetic variants have a low risk of causing disease. […]

A, C, T to Glossary

Numbers The 1000 Genomes Project: The 1,000 Genome Project (1KGP) launched in January 2008 with the aim of generating the […]

1 in 6 colorectal cancer patients have hereditary gene mutation

Researchers within the Mayo Clinic Center for Individualized Medicine have found that 1 in 6 patients with colorectal cancer have […]

Myths and facts

Fake news and misinformation within medicine and healthcare is a serious problem. The advent and popularisation of social media has […]

Data shows incidental findings most frequent in cancer risk genes

A study using Electronic Medical Records and Genomics Network have tracked the frequency and type of secondary or incidental findings […]