Inside AJHG: A Chat with Mark McCarthy

Posted By: Sara Cullinan, PhD, Deputy Editor, AJHG Each month, the editors of The American Journal of Human Genetics interview an author of a recently published paper. This month we check in with Mark McCarthy (@markmccarthyoxf) to discuss his paper “A Multi-tissue Transcriptome Analysis of Human Metabolites Guides Interpretability of Associations Based on Multi-SNP Models... Read More

Trainee Paper Spotlight: Arne De Roeck

Trainee Author: Arne De Roeck, M.Sc PhD Student, Neurodegenerative Brain Diseases Group VIB-UAntwerp Center for Molecular Neurology (Photo courtesy De Roeck) De Roeck A, et al. An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease. Acta Neuropathologica. 2018 Mar 27;135(6) This paper underscores the importance of considering non-coding variation while searching... Read More

Trainee Paper Spotlight: Michael D. Gallagher

Trainee Author: Michael D. Gallagher, BS, PhD Postdoctoral Associate Whitehead Institute for Biomedical Research (Photo courtesy Gallagher) Gallagher MD, et al. A Dementia-Associated Risk Variant near TMEM106B Alters Chromatin Architecture and Gene Expression. AJHG. 2017 Nov 2;101(5):643-663 This paper is a prime example of how to mechanistically follow up on a GWAS result. Gallagher et... Read More

ASHG 2018 Recap: Polygenic Risk Scores

ASHG 2018 Recap: Polygenic Risk Scores

Written by Nascent Transcript writer Brooke Wolford November 2018  What scientific themes did you identify at the ASHG 2018 Annual Meeting? You may remember several themes, including the need for genetics research in diverse populations, the power of large cohorts like the UK Biobank, and the applications of polygenic risk scores (PRS). A PRS, sometimes... Read More

ASHG 2018 Tipsheet: Beyond GWAS/Omics Technologies

ASHG 2018 Tipsheet: Beyond GWAS/Omics Technologies

For Immediate Release Wednesday, October 3, 2018 10:00 a.m. U.S. Pacific Time Media Contact: Ann Klinck 301.634.7342 WHEN: Tuesday through Saturday, Oct. 16-20, 2018 WHERE: American Society of Human Genetics 2018 Annual Meeting San Diego Convention Center 111 West Harbor Drive, San Diego, CA 92101 WHAT: Invited and platform (oral) sessions and other presentations... Read More

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