Variant

For Immediate Release Friday, July 13, 2018 12:00 p.m. U.S. Eastern Time Media Contact: Ann Klinck 301.634.7342 press@ashg.org Geneticist to Receive Award at ASHG 2018 Annual Meeting ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named Cecilia Lindgren, PhD, as the recipient of its 2018 Mentorship Award. This award recognizes ASHG members... Read More

For Immediate Release Wednesday, July 11, 2018 12:00 p.m. U.S. Eastern Time Media Contact: Ann Klinck 301.634.7342 press@ashg.org Physician-Scientist to Receive Award at ASHG 2018 Annual Meeting ROCKVILLE, MD – The American Society of Human Genetics (ASHG) has named Sekar Kathiresan, MD, as the 2018 recipient of the Curt Stern Award. Dr. Kathiresan is the... Read More

  Trainee Author: Ryan Collins, AB PhD Candidate, Program in Bioinformatics and Integrative Genomics Harvard Medical School (Photo courtesy Collins) Collins RL et al. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome. Genome Biology. 2017 Mar 6; 18 (1): 36 This study expands our understanding of the... Read More

Trainee Author: Gaia Andreoletti, PhD Postdoctoral Research Fellow (Brenner Lab) University of California, Berkeley (Photo courtesy Andreoletti) Shinichi Takahashi†, Gaia Andreoletti†, et al. De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. Genome Med. 2017; 9(1):8. This study provides important insights into the pathogenesis of inflammatory bowel disease... Read More

Embargoed for Release Friday, October 20, 2017 5:30 p.m. U.S. Eastern Time Media Contact: Nalini Padmanabhan ASHG Director of Communications and Marketing 301.634.7346 press@ashg.org Findings Reported at ASHG 2017 Annual Meeting BETHESDA, MD – Rare variants combined with background genetic risk factors may account for many unexplained cases of familial breast cancer, and knowing the... Read More