Genomics

Trainee Paper Spotlight: Iris Nira Smith

Author: Iris Nira Smith, PhD Postdoctoral Fellow Genomic Medicine Institute Lerner Research Institute Cleveland Clinic Smith IN, et al. Conformational dynamics and allosteric regulation landscapes of germline PTEN mutations associated with autism compared to those associated with cancer. 2019 American Journal of Human Genetics. May 2;104(5):861-878\ Why do mutations in the same gene sometimes lead... Read More

Researchers Quantify Limitations of Health Reports from Direct-to-Consumer Genetic Tests

Published: Thursday, October 17, 2019, 5:00 p.m. U.S. Central Time Media Contact: Ann Klinck, 301.634.7342, press@ashg.org Findings Reported at ASHG 2019 Annual Meeting HOUSTON, Texas – Health reports from direct-to-consumer (DTC) genetic tests that use a limited variant screening approach often yield clinical false-negative results, which pose the risk of informing health care decisions based... Read More

Trainee Paper Spotlight: Ajai K. Pathak

Trainee Author: Ajai K. Pathak Early Career Researcher Estonian Biocentre-Institute of Genomics University of Tartu (Photo courtesy Jüri Parik)   Pathak AK, et al.The Genetic Ancestry of Modern Indus Valley Populations from Northwest India. American Journal of Human Genetics. 2018 Dec 6;103(6) To fully capture the variation of the human genome it is important to... Read More

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