Sequencing

Posted By: Sarah Ratzel, PhD, Science 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 Aaron Quinlan to discuss his paper, “De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families”. AJHG:... Read More

By ASHG President Anthony Wynshaw-Boris, MD, PhD The COVID-19 pandemic has been a jarring challenge to public health and economies worldwide. Even as we all navigate the crisis and its effect on personal health, professional lives and larger national strategies, I am heartened by the application of science in the public health response to the... Read More

Nascent Transcript Writer: Sumantra Chatterjee, PhD Large scale exome and whole genome sequencing have led to cataloging vast arrays of disease-associated genes and variants for various multifactorial disorders, yet the underlying biology for most of these has been difficult to unravel, leading to diagnostic uncertainty. This has been partly due to our incomplete knowledge of... Read More

Published: Wednesday, October 16, 2019, 9:10 a.m. U.S. Central Time Media Contact: Nalini Padmanabhan, 301.634.7346, press@ashg.org Findings Reported at ASHG 2019 Annual Meeting HOUSTON, Texas – Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference... Read More

Published: Tuesday, October 15, 2019, 5:30 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 – Researchers have implicated 10 new genes in the development of schizophrenia using a method called whole exome sequencing, the analysis of the portion of DNA that codes for proteins.... Read More