330: 5ULTRA: Mapping 5′ UTR variants that alter protein translation
Chaldebas M et al., The American Journal of Human Genetics - Chaldebas et al. present 5ULTRA, a computational pipeline that integrates uORF databases, Kozak-motif features, splicing prediction, and a ...
30 Mar 22min
329: Large future genetic diversity losses predicted despite habitat protection
Mualim KS et al., Proceedings of the National Academy of Sciences - This study develops spatiotemporal population-genetic models calibrated with genomic data to predict how habitat loss and fragmentat...
30 Mar 22min
328: Variant selection boosts R2 for haptoglobin (HP) in cis‑Mendelian randomization
Zhou A et al., Human Genetics and Genomics Advances - Comparing LD‑pruning, COJO, SuSiE and PCA in haptoglobin (HP) cis‑region data, the study finds including non‑lead variants substantially increases...
27 Mar 23min
327: Bi-allelic ATG12 variants impair ATG12-ATG5 conjugation, LC3 lipidation and neural development
Lambton J et al., The American Journal of Human Genetics - Bi-allelic ATG12 variants disrupt ATG12‑ATG5 conjugation and LC3 lipidation, impairing autophagy in patient cells and model systems and causi...
27 Mar 19min
326: DUO-1 protects REC-8 cohesin and synaptonemal complex stability in Caenorhabditis elegans meiosis
Strand LG et al., Proc. Natl. Acad. Sci. U.S.A - In C. elegans germline, the deubiquitinase DUO-1 is required for assembly and active maintenance of the synaptonemal complex and REC-8 cohesin, prevent...
25 Mar 24min
325: cis-pcQTL mapping reveals allelic proxitropy across neighboring human genes
Lawrence et al., The American Journal of Human Genetics - Using a cis-principal-component (pcQTL) approach in human GTEx tissues, the authors uncover novel multi-gene regulatory variants and 33% more ...
24 Mar 23min
324: ZSWIM8–CUL3 clamp on AGO2–miR-7 reveals mechanism of targeted microRNA degradation
Farnung J et al., Nature - Cryo-EM and biochemical reconstitution reveal how the ZSWIM8–CUL3 E3 ligase recognizes human AGO2–miRNA–trigger complexes to polyubiquitylate AGO and drive targeted microRNA...
23 Mar 20min
323: Meat consumption and APOE ε3/ε4–ε4/ε4: slower cognitive decline and lower dementia risk in SNAC‑K
Norgren J et al., JAMA Network Open - Population-based SNAC-K study finds higher meat consumption associated with slower cognitive decline and lower dementia risk in APOE ε3/ε4 and ε4/ε4 older adults....
22 Mar 20min
