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Articles tagged Bioinformatics
(23 results)
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ASHG Meeting Report: A guide to the Exome Aggregation Consortium data
With genomic data from hundreds of thousands of people accumulating, geneticists are now able to mine these data for very rare, but very informative genetic variants, including loss-of-function alleles. For example, across the enormous “reference set” of human exomes announced at the 2014 American Society for Human Genetics Meeting, on average there’s a variant every six bases. In the first of our reports from the ASHG…