333: Holistic determination of cfDNA ends
Jiang P et al., Cell Genomics - This episode reviews a Cell Genomics study that uses ssDNA '2-end' and novel '4-end' sequencing to profile native 5′ and 3′ termini of plasma cfDNA. The work identifies...
4 Apr 24min
332: When Chromatin Filters Force: Age, AP-1, and Fibroblast Mechanotransduction
Liao Y et al., PNAS - Human dermal fibroblasts from young and old donors were embedded in 3D collagen and exposed to mechanical tension and TGF-β. Combining bulk RNA‑seq, ATAC‑seq, imaging, and pertur...
2 Apr 22min
331: Bi-allelic NDUFA5 variants and complex I mitochondriopathy
Tan et al et al., The American Journal of Human Genetics - This report identifies bi-allelic NDUFA5 variants in four individuals from three families causing an isolated mitochondrial complex I deficie...
31 Mar 26min
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
