Trainee Author: Zafar Iqbal, PhD Researcher Oslo University Hospital, Oslo, Norway (Photo courtesy Iqbal) Riazuddin S, Hussain M, Razzaq A, Iqbal Z, et al. Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability. Molecular Psychiatry (2017) 22, 1604-1614 This multi-investigator exome sequencing project aims to discover pathogenic mutations for... 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
Founder DNASimple Dr. Noel was recently recognized in Forbes’ 30 Under 30 Science list and received a $200,000 investment on ABC’s Shark Tank for his company. Burcu Darst, ASHG: Could you tell us about your company, DNAsimple? Dr. Noel: DNAsimple is a marketplace where researchers, particularly those in genetics/genomics, can find and obtain DNA and other specimens from the... Read More
Trainee Author: Ling-shiang Chuang, PhD Instructor and Postdoctoral Fellow Icahn School of Medicine at Mount Sinai (Photo courtesy Chuang) Chuang LS, Villaverde N, Hui KY, et al. A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn’s Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology. 2016; 151(4):710-723.e2. This study uses multiple techniques to... 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
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