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Genetic diversity data offers medical benefits

Study finds human DNA can vary in more than 7 million spots

1:10pm, August 17, 2016
DNA illustration

DIFFERENT DNA A study of more than 60,000 people’s genes reveals previously hidden genetic diversity. 

A large study of human genetic variation finds more than 7 million spots where one person’s DNA can differ from another’s. Analyses of such variants, compiled from cataloging the genes from more than 60,000 people, are already offering doctors helpful insights into diseases such as schizophrenia and some heart conditions.   

Researchers from the Exome Aggregation Consortium first presented their analysis of the ExAC database online at last year (SN: 12/12/15, p. 8). Now, the project is getting its official debut in the Aug. 18 Nature.

An exome is just the protein-producing genes in a person’s genetic instruction book, or genome. Researchers from nearly two dozen studies around the world pooled exome data they had collected from 60,706

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