Paper Spotlight

Trainee Author: David Soave, MSc Graduate Student University of Toronto Hospital for Sick Children A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways. Soave, David et al. The American Journal of Human Genetics, Volume 97, Issue 1, 125 – 138. This paper makes an important contribution to human genetics methods... 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

Trainee Author: Luca Pagani, PhD Postdoctoral Fellow University of Cambridge Tracing the Route of Modern Humans out of Africa by Using 225 Human Genome Sequences from Ethiopians and Egyptians. Pagani, Luca et al. The American Journal of Human Genetics, Volume 96, Issue 6, 986 – 991. This paper explores one of the early questions in... Read More

Trainee Author: Jessica Chong, PhD Acting Instructor University of Washington De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay. Chong, Jessica, X., Bamshad, Michael J. et al.The American Journal of Human Genetics, Volume 96, Issue 3, 462-473. This paper demonstrates the importance and... Read More