.@AJHGNews sat with @lu_wenhan, in the latest "Inside AJHG" to discuss her recently published paper, “Effect heterogeneity reveals complex pleiotropic effects of rare coding variants.”➡️ bit.ly/4zsEVmd #ASHG #GeneticsDiscoveries #HumanGenetics
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@GeneticsSociety
The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
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Authors of @AJHGNews' latest article explore the pathogenic mechanisms that underlie a newly identified neurodevelopmental disorder caused by de novo variants in the splicing factor gene SRSF3. Read the full article: bit.ly/4A9pDTk #ASHG #humangenetics
A recent article from @HGGAdvances presents the pt-TWAS, a pseudotime-based framework that captures dynamic gene effects along developmental trajectories, improving power and identifying disease-relevant cell stages: bit.ly/4sGzJsl #ASHG #geneticsdiscoveries
Authors of @AJHGNews' latest article uncover how repeat length, sequence motifs, and shared haplotypes interact to shape human genetic variation and inform the interpretation of disease-associated loci: cell.com/ajhg/abstract/… #ASHG #humangenetics
A recent @HGGAdvances article from @ClementYChow & co. offers a closer look at four primate-conserved copies of the stress-response gene ATF4, highlighting an unexpected role for retroduplication in human genome function and evolution: bit.ly/4eBv9pA #ASHG #humangenetics