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Complex Disease Genomics

Rare Gene Variant Could Protect Against Heart Attacks

Combination of sample access and analysis methods sheds light on association between genes and disease

Rare Gene Variant Could Protect Against Heart Attacks
19 December 2014

Researchers at the HUNT Biobank in Norway recently used samples from their Biobank to identify a rare gene variant with a protective effect against myocardial infarctions, commonly known as heart attacks.

To identify the new gene variant, Dr. Kristian Haveem, HUNT Biobank director, tapped into the Biobank and selected 6,000 participant samples. He then used the Infinium® HumanExome BeadChip to analyze single nucleotide polymorphisms (SNPs) and explore genes associated with cardiovascular disease in large genome-wide association study (GWAS).

A biobank consists of biological samples and associated medical history from thousands of people, enabling researchers to look for disease susceptibility biomarkers in specific population samples for their projects. The Hunt Biobank, which holds hundreds of thousands of samples from the Norwegian population, includes samples representing individuals in various states of health, making it an ideal resource for researchers looking to identify genetic variations associated with a particular disease.

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