Copy Number

ASHG recently engaged with members and the public through Twitter by sharing facts about each human chromosome throughout the month of April. As a follow-up activity, ASHG organized the Chromosome Clash, a March Madness-style bracket for followers to vote on their favorite chromosome. Chromosome 18 beat out all 23 other chromosomes to emerge as champion, thanks... Read More

For Immediate Release Thursday, August 9, 2018 10:00 a.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 James R. Lupski, MD, PhD, as the 2018 recipient of the Victor A. McKusick Leadership Award.... Read More

Embargoed for Release Wednesday, October 18, 2017 9:30 a.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 – Duplications of large segments of noncoding DNA in the human genome may have contributed to the emergence of differences between humans... Read More

Trainee Author: Masoud Zamani Esteki, PhD Postdoctoral Fellow, Research Associate Katholieke Universiteit Leuven Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells. Zamani Esteki, Masoud et al. The American Journal of Human Genetics , Volume 96 , Issue 6 , 894 – 912. This paper makes an important contribution to genetics by developing a single-cell... Read More