Tag: Genetic Variants
Animal Biobanking for Conservation Specialist Group Aims to Establish Global Network for Genetic Resources...
Our world is currently facing a massive crisis of extinction, where the populations of various wildlife species have reduced by an average of 69% since 1970. We are at risk of losing the genetic diversity that is crucial for...
CureDuchenne Partners with PicnicHealth to Incorporate Electronic Health Records into Data-Integrated Biobank
CureDuchenne, a worldwide non-profit organization dedicated to discovering and financing a remedy for Duchenne muscular dystrophy, has recently announced a partnership with PicnicHealth, a health technology company that prioritizes patient-centered care. This partnership aims to enhance CureDuchenne Link's ability...
Global Biobank Meta-analysis Initiative (GBMI) Connects Biobanks Together to Enable Better Studies of Genetic...
In 2019, scientists at the Broad Institute of MIT and Harvard, together with colleagues at the University of Michigan and researchers around the world, founded the Global Biobank Meta-analysis Initiative (GBMI) to connect international biobanks in order to enable larger,...
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...
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...
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...
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...
