NHGRI
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Studies combine genetic testing, electronic health records to find undiagnosed diseases
Combining genetic testing with information from electronic health records revealed undiagnosed heart rhythm disorders and new conditions associated with inherited cancer gene mutations. Read MoreApr 28, 2022
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Genetics of hydrocephalus
Fluid build-up in the brain — hydrocephalus — increases pressure and risk for brain damage; Vanderbilt researchers have now identified genes and signaling pathways associated with the condition. Read MoreJul 8, 2021
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Gene variant linked to unnecessary bone marrow biopsies in African Americans
A gene variant that lowers white blood cell levels and is common in individuals with African ancestry contributes to unnecessary bone marrow biopsies, according to a study published June 28 in JAMA Internal Medicine. The findings, led by investigators at VUMC, are an example of how using genetic data could reduce a health disparity. Read MoreJun 28, 2021
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Genetic ancestry and hypertension risk
Racial disparities in hypertension risk are due in part to genetic differences between ancestries, Vanderbilt investigators find in a study of participants in the Million Veteran Program. Read MoreApr 29, 2021
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New tool to probe genetic mechanisms of disease
Vanderbilt Genetics Institute investigators have added a new method to the computational genetics toolbox. Their approach, described in the journal Nature Genetics, integrates vast genomics datasets to predict gene expression and facilitate discovery of genetic mechanisms underlying human diseases. Read MoreOct 22, 2020
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Robotic technology speeds arrhythmia gene classification
Vanderbilt University Medical Center investigators have used high-throughput robotic technology to rapidly study and classify variations in a gene linked to heart rhythm disorders and cardiac conditions. Read MoreJun 12, 2020
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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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New tool probes gene regulation
Vanderbilt biochemists got unexpected results when they used their new approach to explore the role of DNA methylation in gene regulation. Read MoreFeb 6, 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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How to fake a medical record
Simulated electronic health records could avoid patient privacy risks and help speed discovery. Read MoreNov 4, 2019
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Neanderthal DNA has subtle but significant impact on human traits
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. Read MoreFeb 11, 2016
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Data diving for health
To most effectively use electronic health records for research, investigators should query multiple components of the record to identify patients with specific diseases. Read MoreSep 23, 2015
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Biomarker for diabetic eye disease
A person’s mitochondrial gene “signature” could predict risk for diabetic retinopathy and guide early intervention strategies. Read MoreSep 26, 2014
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Mitochondrial mutations not random
A study of mitochondrial DNA mutations suggests they result from a process that selects for particular mutations in certain tissues. Read MoreNov 25, 2013
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Diagnostic codes identify smoking status
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. Read MoreMar 15, 2013
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Genes, nutrients interact to shape traits
A new study identifies interactions between genes and nutrients that may participate in determining levels of cholesterol and triglycerides. Read MoreDec 12, 2012
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Making order out of ordinal data
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. Read MoreJun 12, 2012
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Vanderbilt researchers help reveal complex role of genes in autism
Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD). Read MoreApr 4, 2012
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Examining the ethics of sharing genetic risk information
Should scientists inform participants in genomic studies about their risk for diseases or conditions discovered during the studies, and if so, when and how? A Vanderbilt professor is part of a team working to answer these questions. Read MoreSep 28, 2011
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Keep left, protein says
A regulatory loop in zebrafish may explain how the right and left sides of our brains take on different functions. Read MoreAug 26, 2011