Mendelian Disease
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EHRs, biobanks and Mendelian diseases
Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis. Read MoreApr 30, 2020
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Vanderbilt-led team discovers new genetic disease and defines underlying mechanism
An international research team has discovered a new genetic syndrome caused by mutation of a single gene and named it CATIFA, an acronym for its core symptoms. Read MoreJan 13, 2020
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Gregor Mendel would be proud
A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do. Read MoreDec 12, 2019