American Journal of Human Genetics Archives
New reference tool supports replication of DNA biobank studies
Aug. 31, 2023—Vanderbilt researchers created a phenotype-genotype reference map to assess data quality in DNA biobanks.
Breast cancer genetics: new insights
Feb. 16, 2023—Largest genetic study of breast cancer to date identifies 222 genetic risk loci, 137 genes and multiple signaling pathways associated with risk, providing important new insights.
Preempting sudden cardiac death
Jul. 7, 2022—A technique to characterize all variants in genes associated with arrhythmia could improve the ability to identify and preemptively treat individuals at risk for sudden cardiac death.
Two VUMC papers named among genomic medicine’s top 10
Dec. 16, 2021—Vanderbilt researchers wrote two of the “top 10” papers representing key advances in genomic medicine published between September 2020 and August 2021.
Gene discoveries give new hope to people who stutter
Dec. 2, 2021—New research shows the potential to identify therapeutic directions that could improve outcomes for people who stutter.
Study finds genetic clues to pneumonia risk and COVID-19 disparities
Jan. 21, 2021—Researchers at Vanderbilt University Medical Center and colleagues have identified genetic factors that increase the risk for developing pneumonia and its severe, life-threatening consequences.
Genes spell penicillin allergy risk
Oct. 1, 2020—Studies using large DNA biobanks revealed genetic variants associated with penicillin allergy, the most common type of drug-induced allergic reaction.
Robotic technology speeds arrhythmia gene classification
Jun. 12, 2020—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.
Cancer susceptibility genes
Aug. 26, 2019—Gene variants associated with cancer risk appear to contribute to carcinogenesis by regulating target genes that in turn promote the generation of mutations.
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.
New breast cancer targets
May. 4, 2018—A special genetic analysis has revealed candidate genes associated with increased risk of breast cancer.
Investigators apply game theory to study of genomic privacy
Jan. 12, 2017—It comes down to privacy — biomedical research can’t proceed without human genomic data sharing, and genomic data sharing can’t proceed without some reasonable level of assurance that de-identified data from patients and other research participants will stay de-identified after they’re released for research.
