The normal human genome contains about 54 mutations that might sicken or even kill their bearer, but they don’t. Recently, medical genetics has been evolving, as the fast pace of genomic research has packed the literature with thousands of gene mutations associated with disease and disability. Many such associations are solid, but many others once suggested to be dangerous or even lethal are turning out to be not so through the Exome Aggregation Consortium, or ExAC.
ExAC combines sequences for the protein-coding region of the genome — the exome — from more than 60,000 people into one database, allowing scientists to compare and understand how variable they are. The resource is having tremendous impacts in biomedical research, by helping scientists to eliminate bogus disease–gene links, and generating new discoveries. By looking more closely at the frequency of mutations in different populations, researchers can gain insight into what many genes do and how their protein products function. ExAC has turned completely revised how we look at genetics, as instead of starting with a disease or trait and working backwards to find its genetic underpinnings, researchers can start with mutations that look like they should have an interesting effect and investigate what might be happening in the people who harbour them.
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