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NHGRI

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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New tool probes gene regulation

Feb. 6, 2020—Vanderbilt biochemists got unexpected results when they used their new approach to explore the role of DNA methylation in gene regulation.

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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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How to fake a medical record

Nov. 4, 2019—Simulated electronic health records could avoid patient privacy risks and help speed discovery.

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Neanderthal DNA has subtle but significant impact on human traits

Feb. 11, 2016—The first study that directly compares Neanderthal DNA in the genomes of a significant population of adults of European ancestry with their clinical records confirms that this archaic genetic legacy has a subtle but significant impact on modern human biology.

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Data diving for health

Sep. 23, 2015—To most effectively use electronic health records for research, investigators should query multiple components of the record to identify patients with specific diseases.

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Biomarker for diabetic eye disease

Sep. 26, 2014—A person’s mitochondrial gene “signature” could predict risk for diabetic retinopathy and guide early intervention strategies.

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Mitochondrial mutations not random

Nov. 25, 2013—A study of mitochondrial DNA mutations suggests they result from a process that selects for particular mutations in certain tissues.

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Diagnostic codes identify smoking status

Mar. 15, 2013—Diagnostic codes used for billing purposes effectively identify smokers in a general clinic population and can be used to adjust smoking status in genetic and epidemiologic studies.

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Genes, nutrients interact to shape traits

Dec. 12, 2012—A new study identifies interactions between genes and nutrients that may participate in determining levels of cholesterol and triglycerides.

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Making order out of ordinal data

Jun. 12, 2012—A new statistical tool developed by Vanderbilt biostatisticians will help medical researchers make sense of a commonly encountered – but hard-to-analyze – type of data.

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Vanderbilt researchers help reveal complex role of genes in autism

Apr. 4, 2012—Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD).

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