Paper Spotlight

  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: 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

Trainee Author: Cassandra N. Spracklen, PhD Postdoctoral Fellow University of North Carolina at Chapel Hill (Photo courtesy Spracklen) Cassandra N. Spracklen et al. Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. Human Molecular Genetics (2017); 26(9);1770–1784. This study provides novel insights into... Read More

Trainee Author: Johanna Känsäkoski PhD student University of Helsinki (Photo courtesy Känsäkoski) Johanna Känsäkoski et al. Complete androgen insensitivity syndrome caused by a deep intronic pseudoexon-activating mutation in the androgen receptor gene. Scientific Reports (2016); 6: 32819. This paper highlights the use of sequencing technology to identify causative mutations in patients with a normal androgen receptor... Read More