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 Heather Mefford to discuss her paper, “Biallelic loss-of-function variants in NUP188 cause a recognizable syndrome characterized by neurologic, ocular and cardiac abnormalities”. 1. What caused you to start working on... Read More

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 Amy Williams to discuss her paper, “Rapid, Phase-free Detection of Long Identity-by-Descent Segments Enables Effective Relationship Classification”. AJHG: What caused you to start working on this project? Amy: Our past work on... Read More

In the American Journal of Human Genetics this week, ASHG affirms its support for a woman’s right to make her own reproductive decisions, particularly upon learning that her fetus has a genetic or congenital disorder. The Society also articulates its support for laws that enable human fetal tissue research to proceed with appropriate oversight, within... Read More

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

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 Andy Dahl to discuss his paper “A robust method uncovers significant context-specific heritability in diverse complex traits.” AJHG: What prompted you to... Read More