Updated 22 February 2018

Catalogue of DNA helps locate roots of disease

Researchers are finding small faults in human DNA that cause disease, generally caused by a single malfunctioning gene.

A huge catalogue of human DNA is helping researchers find tiny glitches that cause disease, in part by pointing out some false leads.

The database contains genetic codes from more than 60,000 people. It's aimed at researching rare diseases that are generally caused by a single malfunctioning gene. Most of these diseases are so uncommon that the general public has never heard of them, but there are thousands of such conditions, and as a group they affect about 1 percent of births.

An analysis presented in the journal Nature shows that the database can be used to correct the record for tiny variations in DNA that were incorrectly thought to cause disease.

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