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Large-scale DNA sequence resource reveals new regions of the human genome under natural selection

Large-scale DNA sequence resource reveals new regions of the human genome under natural selection
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United States , Siwei Chen , Konrad Karczewski , Broad Institute , Department Of Medicine , Member Of The Broad Institute , Massachusetts General Hospital , Assistant Professor , Translational Genetics Unit , Associate Member , Genome Aggregation Database , Coding Constraint ,

New online resource helps connect rare genetic variants to human health and disease

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 percent less likely to have coronary heart disease than people with functioning PCSK9 . ....

Katherine Chao , Konrad Karczewski , Matthew Solomonson , Benjamin Neale , Broad Institute , National Institutes Of Health , United Kingdom Biobank , Cell Genomics , Population Genetics , United Kingdom , National Institutes , Biological Databases , Branches Of Biology , Genome Wide Association Study , Statistical Genetics , Uk Biobank ,

Genebass Browser Launched to Help Improve Genetic Disease Identification

New browser tool Genebass allows researchers and clinicians to search for rare genetic variants linked to diseases. ....

Konrad Karczewski , Broad Institute , Harvard University , United Kingdom Biobank , Cell Genomics , White European ,