"medical genetics has been going through a bit of soul-searching. The fast pace of genomic research since the start of the twenty-first century has packed the literature with thousands of gene mutations associated with disease and disability. Many such associations are solid, but scores of mutations once suggested to be dangerous or even lethal are turning out to be innocuous. These sheep in wolves' clothing are being unmasked thanks to one of the largest genetics studies ever conducted: the Exome Aggregation Consortium, or ExAC.
ExAC is a simple idea. It 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 them and understand how variable they are. But the resource is having tremendous impacts in biomedical research. As well as helping scientists to toss out spurious disease–gene links, it is 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...
MacArthur started asking his colleagues to share their data with him. He was well suited to the task: an early adopter of social media, his lively blog posts and acerbic Twitter feed had made him unusually popular and authoritative for a young scientist. He also had a position with the Broad Institute in Cambridge, Massachusetts, a genome-sequencing powerhouse. MacArthur convinced researchers to share data from tens of thousands of exomes with him; most were in some way connected to the Broad...
Many disease-association studies, particularly in recent years, have identified mutations as pathogenic simply because scientists performing analyses on a group of people with a disorder found mutations that looked like the culprit, but didn't see them in healthy people. But it's possible that they weren't looking hard enough, or in the right populations. Baseline 'healthy' genetic data has tended to come mainly from people of European descent, which can skew results.
In August this year, MacArthur's group published1 its analysis of ExAC data in Nature, revealing that many mutations thought to be harmful are probably not."
Check out the ExAc browser, it is actually super interesting and gives you all kinds of information, I got very sucked in...
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