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New Genebass Online Resource Helps Connect Rare Genetic Variants to Human Disease and Health

MIT and Harvard Researchers Create Online Resource to Help Connect Rare Genetic Variants to...

In 2006, researchers discovered that people with certain variants of the gene PCSK9 had dramatically lower cholesterol levels than the general population. Individuals with two broken copies of the gene — one from each parent — were up to 88...
Final Sequenced Data Release from the World’s Largest Whole Exome Sequencing Project of UK Biobank

UK Biobank Released Final Data from the World’s Largest Whole Exome Sequencing Project

UK Biobank has added the final tranche of exome sequencing data to its research database. This represents the completion of cohort-wide exome sequencing for over 470,000 participants within the UK Biobank resource. These de-identified data can now be accessed...
Polygenic Risk Scores in diverse populations

Biobank Data Reveals African Ancestry is Less Likely to Identify High-Risk Individuals Through Polygenic...

An international research consortium led by the University of Helsinki has performed the largest study to date evaluating the transferability of genome-wide polygenic risk scores across ancestries. Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects...
Population Biobanks: A Remarkable Tool to Investigate the Impact of Genetic Variants in Human Diseases

Population Biobanks: A Remarkable Tool to Investigate the Impact of Genetic Variants in Human...

The term "biobank" refers to an organized collection of biological samples stored at low temperatures, donated by groups of people. Along with the information regarding donors, this tool serves as an invaluable and remarkable resource for research on genetic...

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