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Researchers Discover Three Genes Linked to Clotting

In a study in the American Journal of Human Genetics, researchers at the University of Edinburgh say they've discovered three genes that make a substantial contribution to blood-clotting times. The team, led by Ian Deary, says identifying the genes could further scientists' understanding of deep vein thrombosis, heart attacks, and some types of stroke. The study looked for associations between 500,000 genetic markers and clotting time, measured by activated partial thromboplastin time. Three genes — F12, HRG, and KNG1 — seemed to be responsible for a substantial amount of the variation in clotting speed among healthy individuals. Deary says the researchers are planning to follow up on the findings to establish their clinical significance.

The Scan

UK Pilot Study Suggests Digital Pathway May Expand BRCA Testing in Breast Cancer

A randomized pilot study in the Journal of Medical Genetics points to similar outcomes for breast cancer patients receiving germline BRCA testing through fully digital or partially digital testing pathways.

Survey Sees Genetic Literacy on the Rise, Though Further Education Needed

Survey participants appear to have higher genetic familiarity, knowledge, and skills compared to 2013, though 'room for improvement' remains, an AJHG paper finds.

Study Reveals Molecular, Clinical Features in Colorectal Cancer Cases Involving Multiple Primary Tumors

Researchers compare mismatch repair, microsatellite instability, and tumor mutation burden patterns in synchronous multiple- or single primary colorectal cancers.

FarGen Phase One Sequences Exomes of Nearly 500 From Faroe Islands

The analysis in the European Journal of Human Genetics finds few rare variants and limited geographic structure among Faroese individuals.