Using DNA sequencing data with electronic health records to find rare variants behind inherited diseases
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12 January 2021Using DNA sequencing data with electronic health records to find rare variants behind inherited diseases
A large team of researchers affiliated with a large number of institutions in the U.S. has used DNA sequencing data and information stored in electronic health record databases to search for rare genetic variants that may be behind some inheritable diseases. In their paper published in the journal Nature Medicine, the group describes how they analyzed DNA sequencing data and used it to help look for unknown gene variants behind some inherited diseases and what they found.
