462: A vessel gene tied to AMD dims low-light vision in mice
Cheng et al., Proceedings of the National Academy of Sciences - Genome-wide studies have found dozens of risk loci for age-related macular degeneration, but for many of them the gene doing the work is...
30 Sep 20min
461: Adult Ank3 loss quiets neurons and lowers a myelin protein
Yoon et al., Proceedings of the National Academy of Sciences - ANK3, which encodes the scaffolding protein ankyrin-G, is a major risk gene for bipolar disorder and schizophrenia, yet what it does in a...
24 Sep 24min
460: The lupus variant that also sharpens antiviral defense
Virolainen et al., The American Journal of Human Genetics - A lupus signal on chromosome 11p15 narrows to a coding haplotype in IRF7 that most people in the world carry. This study shows the risk form...
21 Sep 24min
459: Cerebral palsy genetics: 515 candidate genes, evidence for 89
Arterbery et al., The American Journal of Human Genetics - Hundreds of genes have been reported as causes of cerebral palsy, yet there is no agreed model of what a pathogenic variant in a child with C...
13 Sep 24min
458: Somatic or inherited? Reading TP53 risk from shared DNA
MacGregor et al., The American Journal of Human Genetics - Pathogenic TP53 variants found in blood have long been read as inherited Li-Fraumeni alleles, but many turn out to be somatic clones that gre...
10 Sep 25min
457: A deletion that raises Alzheimer risk, a duplication that lowers it
Quenez O et al., The American Journal of Human Genetics - Rare copy-number variants were called from 22,319 exomes covering early-onset Alzheimer disease, late-onset disease and unaffected controls, t...
9 Sep 24min
456: Beyond exons: where heritability hides as traits get more polygenic
Fuhrer J et al., The American Journal of Human Genetics - Across 34 complex traits and disorders, a MiXeR-based framework partitions SNP heritability over 74 functional annotations and finds that exon...
8 Sep 45min
455: Agentic genomics: the bottleneck moves from code to judgment
Corpas M et al., Cell Genomics - A Perspective arguing that autonomous AI agents which discover, configure and chain bioinformatics operations from natural-language instructions have shifted the bottl...
7 Sep 13min
