New online resource helps connect rare genetic variants to h

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 .

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Katherine Chao , Konrad Karczewski , Matthew Solomonson , Benjamin Neale , Broad Institute , Pfizer , National Institutes Of Health , United Kingdom Biobank , Cell Genomics , Population Genetics , United Kingdom , National Institutes , Bioinformatics , Disease , Genetics , Genomics , Research , Biological Databases , Branches Of Biology , Genome Wide Association Study , Pcsk9 , Statistical Genetics , Uk Biobank ,

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