Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 04/09/2026Integrated map of somatic mosaicism across human tissues in 25 individuals www.biorxiv.org/content/10.64898/20… 043
Reposted by Quanyu ChenNature @nature.com · 27/08/2026Nature research paper: Primate-specific regulation of the human glycosphingolipid gatekeeper UGCG go.nature.com/4gAtuRigo.nature.comPrimate-specific regulation of the human glycosphingolipid gatekeeper UGCG - NatureCryogenic electron microscopy structures of full-length human UGCG, the gatekeeper that dictates the scale and composition of glycosphingolipid diversity, are reported, showing that it uses a metal-independent catalytic mechanism driven by an arginine network. 2181
Reposted by Quanyu ChenmedRxivpreprint @medrxivpreprint.bsky.social · 26/08/2026A high-resolution human pangenome structural variant resource for improved disease association www.medrxiv.org/content/10.64898/20… 012
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 25/08/2026An Epigenetic Signature of Vulnerable Neurons is Under Selective Pressure Associated with Longevity Across Placental Mammals. www.biorxiv.org/content/10.64898/20… 021
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 25/08/2026Multidimensional telomere diversity and inheritance at individual and population scales www.biorxiv.org/content/10.64898/20… 012
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 24/08/2026Human panepigenome represents epigenomic diversity www.biorxiv.org/content/10.64898/20… 012
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20268/8 Together, our results connect paralog-specific dosage variation in protein digestion with population differentiation, structural evolution and dietary adaptation—across human populations and diverse mammalian lineages. 010
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20267/8 This pattern extends beyond humans. Across eutherian mammals, independent PGA expansions were enriched in plant-dominant lineages, suggesting that increased pepsinogen dosage has repeatedly emerged in association with dietary ecology. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20266/8 How is this remarkable copy-number diversity generated? The PGA locus is highly structurally dynamic: recurrent nonallelic homologous recombination (NAHR) continually generates new structural variation on which evolutionary forces can act. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20265/8 The East–West divergence is driven primarily by expansion of PGA34A. Recombinant enzyme assays further showed that PGA34A is the most proteolytically active paralog in vitro, linking paralog-specific dosage to digestive capacity. 110
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20264/8 Modern and ancient genomes reveal contrasting evolutionary regimes: a recent selective sweep in East Eurasia, but signatures of balancing selection in the West. Ancient genomes further show that PGA copy number increased in the East over the past ~9,000 years. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20263/8 Across Eurasia, PGA copy number shows a striking west-to-east increase. This geographic variation also tracks regional reliance on plant-derived protein, linking PGA dosage variation to differences in dietary ecology. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20262/8 Using 1,348 haplotype-resolved assemblies from recent pangenome resources including APG, HPRC, and HGSVC, we reconstructed copy-number and structural variation at the PGA locus across global populations. 101
Quanyu Chen @yeezus-chen.bsky.social · 21/08/2026Diet has repeatedly shaped the human genome, yet adaptation of protein digestion remains poorly understood. In our new preprint, we investigate the evolutionary history of the human pepsinogen A (PGA) locus. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20264/8 Population genetics revealed contrasting regimes: a recent selective sweep in East Eurasia, but signatures of balancing selection in the West. Ancient genomes showed the same asymmetry—PGA copy number rose in the East over ~9,000 years, but remained stable in the West. 010
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20263/8 PGA is also unusually dynamic. Pangenome-based reconstruction and 26 trios revealed recurrent nonallelic homologous recombination (NAHR), including two de novo events, continually regenerating copy-number diversity. 100
Quanyu Chen @yeezus-chen.bsky.social · 21/08/20262/8 The variation is not random across the locus. Nearly all CNV is driven by expansion of PGA34A, while PGA34B and PGA5 remain largely fixed at the boundaries. Across 1,348 complete haplotypes, we resolved 36 structural haplotypes. 100
Reposted by Quanyu ChenbioRxiv Evolutionary Biology @biorxiv-evobio.bsky.social · 13/08/2026Rapid convergence toward an agriculturalist regulatory landscape following lifestyle transition in Bornean hunter-gatherers www.biorxiv.org/content/10.64898/20… 043
Reposted by Quanyu ChenCell - a Cell Press journal @cp-cell.bsky.social · 06/08/2026New issue alert👉https://cell.com/cell/current On the cover: The Telomere-to-Telomere Consortium has finished the complete, diploid genome of a person. The cover is inspired by a karyotype of the chromosomes in metaphase, representing the two haplotypes as different colors. 13214
Reposted by Quanyu ChenmedRxivpreprint @medrxivpreprint.bsky.social · 30/07/2026Origin and structural evolution of the complex genomic regions of human Y chromosome www.medrxiv.org/content/10.64898/20… 001
Quanyu Chen @yeezus-chen.bsky.social · 29/07/2026Our Asian PanGenome project phase1 was finally out on preprint. And there are many companion papers about centromeres, archaic introgression... 010
Reposted by Quanyu ChenbioRxiv Evolutionary Biology @biorxiv-evobio.bsky.social · 24/07/2026Deciphering complete archaic introgression sequences in modern human genomes www.biorxiv.org/content/10.64898/20… 021
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 24/07/2026Multidimensional variation and population stratification across 8000 complete human centromeres www.biorxiv.org/content/10.64898/20… 022
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 22/07/2026HPRC2: A human pangenome reference with near-complete coverage of common genetic variation www.biorxiv.org/content/10.64898/20… 04024
Reposted by Quanyu ChenbioRxiv Genomics @biorxiv-genomic.bsky.social · 06/06/2026Population-scale Y chromosome assemblies reveal recurrent remodeling within constrained architectures www.biorxiv.org/content/10.64898/20… 043
Reposted by Quanyu ChenHeng Li @lh3lh3.bsky.social · 03/12/2025579 high-quality human genomes from @humanpangenome.bsky.social, Arab Pangenome and individual papers (CHM13, CN1, KSA001, I002C, YAO and KOREF1). Sequences available in the AGC format (3.7GB) and FM-index in the ropebwt3 format (20.3GB). For details, see github.com/lh3/human-asmgithub.comGitHub - lh3/human-asm: A collection of high-quality human genomesA collection of high-quality human genomes. Contribute to lh3/human-asm development by creating an account on GitHub. 15823
Reposted by Quanyu ChenFrom the Labs at Baylor College of Medicine @bcmfromthelabs.bsky.social · 18/11/2025Learn about the major accomplishments of @gregor-research.bsky.social. R. Gibbs, @bcmhgsc.bsky.social @moezdawood.bsky.social #LupskiLab @sedlazeck.bsky.social @poseypod.bsky.social @bcmhouston.bsky.social S. Montgomery @stanfordmedicine.bsky.social @nature.com blogs.bcm.edu/2025/11/18/f...blogs.bcm.eduHow GREGoR Consortium is advancing the diagnostics of rare diseasesLearn about the major accomplishments of the consortium’s first five years and the frontiers in genomic medicine that researchers will tackle next. 024