NHGRI 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.
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.
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.
How to fake a medical record
Nov. 4, 2019—Simulated electronic health records could avoid patient privacy risks and help speed discovery.
Gamazon receives NIH Genomic Innovator Award
Sep. 19, 2019—VUMC's Eric Gamazon is one of only six investigators to receive an inaugural Genomic Innovator Award from the National Human Genome Research Institute, part of the NIH.
Study merges big data and zebrafish biology to reveal mechanisms of human disease
Apr. 24, 2019—In a series of studies that volleyed between large databases and research in zebrafish, Vanderbilt investigators have discovered a link between vascular biology and eye disease.
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.
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.
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.
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.
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.
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.
