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Mendelian disease Archives

EHRs, biobanks and Mendelian diseases

Apr. 30, 2020—Electronic health records and biobanks can be effectively combined to detect and study Mendelian diseases such as cystic fibrosis.

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Vanderbilt-led team discovers new genetic disease and defines underlying mechanism

Jan. 13, 2020—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.

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Gregor Mendel would be proud

Dec. 12, 2019—A computational method that uses hospital billing codes and electronic health records can identify genetic disease cases before clinical teams do.

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