Research graph
References from Urban Genomics in a Rapidly Urbanizing Megacity Reveals Layered Cardiometabolic Genetic Architecture. Local targets link to admitted publications; unresolved targets remain external evidence.
Unresolved reference
2019 · External reference
The impact of megacities on health: preparing for a resilient future
10.1016/s2542-5196(17)30080-3 · 2017 · External reference
How does urbanization affect public health? New evidence from 175 countries worldwide
10.3389/fpubh.2022.1096964 · 2023 · External reference
Complement factor H polymorphism in age-related macular degeneration
10.1126/science.1109557 · 2005 · External reference
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
10.1093/nar/gkw1133 · 2017 · External reference
Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia
10.1038/ng.3973 · 2017 · External reference
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways
10.1038/s41588-018-0333-3 · 2019 · External reference
Genomic dissection of population substructure of Han Chinese and its implication in association studies
10.1016/j.ajhg.2009.10.015 · 2009 · External reference
Han: the Han Chinese genome database and analysis platform
10.1093/nar/gkz829 · 2020 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
Large-scale whole-genome sequencing of the Icelandic population
10.1038/ng.3247 · 2015 · External reference
The mutational constraint spectrum quantified from variation in 141,456 humans
10.1038/s41586-020-2308-7 · 2020 · External reference
W.-G. S. Whole-genome sequencing of 490,640 UK Biobank participants
10.1038/s41586-025-09272-9 · 2025 · External reference
Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program
10.1038/s41586-021-03205-y · 2021 · External reference
Genomic data in the All of Us Research Program
2024 · External reference
Precision public health in the era of genomics and big data
10.1038/s41591-024-03098-0 · 2024 · External reference
Unresolved reference
1994 · External reference
Prioritizing diversity in human genomics research
10.1038/nrg.2017.89 · 2018 · External reference
Deconstructing the sources of genotype-phenotype associations in humans
10.1126/science.aax3710 · 2019 · External reference
Benefits and limitations of genome-wide association studies
10.1038/s41576-019-0127-1 · 2019 · External reference
Analysis of polygenic risk score usage and performance in diverse human populations
10.1038/s41467-019-11112-0 · 2019 · External reference
Fine-scale population structure and widespread conservation of genetic effect sizes between human groups across traits
10.1038/s41588-024-02035-8 · 2025 · External reference
Unresolved reference
2006 · External reference
Patterns of shared signatures of recent positive selection across human populations
10.1038/s41559-018-0478-6 · 2018 · External reference
The deep population history of northern East Asia from the Late Pleistocene to the Holocene
10.1016/j.cell.2021.04.040 · 2021 · External reference
Greenlandic Inuit show genetic signatures of diet and climate adaptation
10.1126/science.aab2319 · 2015 · External reference
Unresolved reference
2010 · External reference
Mapping human genetic diversity in Asia
10.1126/science.1177074 · 2009 · External reference
The GenomeAsia 100K Project enables genetic discoveries across Asia
10.1038/s41586-019-1793-z · 2019 · External reference
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
10.1038/ncomms9018 · 2015 · External reference
Overview of the BioBank Japan Project: Study design and profile
10.1016/j.je.2016.12.005 · 2017 · External reference
Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
10.1126/sciadv.adi8419 · 2024 · External reference
Unresolved reference
2020 · External reference
Korean Genome Project: 1094 Korean personal genomes with clinical information
10.1126/sciadv.aaz7835 · 2020 · External reference
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals
10.1038/s41422-020-0322-9 · 2020 · External reference
NyuWa Genome resource: a deep whole-genome sequencing-based variation profile and reference panel for the Chinese population
10.1016/j.celrep.2021.110017 · 2021 · External reference
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project
10.1038/s41467-022-30526-x · 2022 · External reference
Toward a fine-scale population health monitoring system
10.1016/j.cell.2021.03.034 · 2021 · External reference
A genetic map of the modern urban society of Amsterdam
10.3389/fgene.2021.727269 · 2021 · External reference
Large-scale whole-genome sequencing of three diverse Asian populations in Singapore
10.1016/j.cell.2019.09.019 · 2019 · External reference
Population-scale genomic medicine with the Hong Kong Genome Project
2026 · External reference
The Born in Guangzhou Cohort Study enables generational genetic discoveries
10.1038/s41586-023-06988-4 · 2024 · External reference
dbSNP—database for single nucleotide polymorphisms and other classes of minor genetic variation
10.1101/gr.9.8.677 · 1999 · External reference
Rare variant contribution to human disease in 281,104 UK Biobank exomes
10.1038/s41586-021-03855-y · 2021 · External reference
o. t. N. Whole-genome sequence variation, population structure and demographic history of the Dutch population
10.1038/ng.3021 · 2014 · External reference
Genomics of disease risk in globally diverse populations
10.1038/s41576-019-0144-0 · 2019 · External reference
Unresolved reference
2023 · External reference
Population genetic simulations of complex phenotypes with implications for rare variant association tests
10.1002/gepi.21866 · 2015 · External reference
Rare penetrant mutations confer severe risk of common diseases
10.1126/science.abo1131 · 2023 · External reference
Unresolved reference
2002 · External reference
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4 + 1A > G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda
10.1038/ejhg.2008.219 · 2009 · External reference
Mechanisms and regulation of alternative pre-mRNA splicing
10.1146/annurev-biochem-060614-034316 · 2015 · External reference
Diversity and consequences of structural variation in the human genome
2025 · External reference
Insights into human genetic variation and population history from 929 diverse genomes
10.1126/science.aay5012 · 2020 · External reference
Ancestral origins and genetic history of Tibetan highlanders
10.1016/j.ajhg.2016.07.002 · 2016 · External reference
Genetic history of Xinjiang’s Uyghurs suggests Bronze Age multiple-way contacts in Eurasia
10.1093/molbev/msx177 · 2017 · External reference
Genetic origins and sex-biased admixture of the Huis
10.1093/molbev/msab158 · 2021 · External reference
Genetic origins and adaptive evolution of the Deng people on the Tibetan Plateau
10.1093/molbev/msad205 · 2023 · External reference
Reconstructing the ancestral gene pool to uncover the origins and genetic links of Hmong–Mien speakers
10.1186/s12915-024-01838-9 · 2024 · External reference
Haplotype-resolved de novo assembly of a Tujia genome suggests the necessity for high-quality population-specific genome references
10.1016/j.cels.2022.01.006 · 2022 · External reference
Genetic evidence of tri-genealogy hypothesis on the origin of ethnic minorities in Yunnan
10.1186/s12915-022-01367-3 · 2022 · External reference
Ancient Yellow River ancestry and divergent admixture histories in the Qiang people
10.1126/sciadv.ady6667 · 2026 · External reference
Multiple human population movements and cultural dispersal events shaped the landscape of Chinese paternal heritage
10.1093/molbev/msae122 · 2024 · External reference
River valleys shaped the maternal genetic landscape of Han Chinese
10.1093/molbev/msz072 · 2019 · External reference
Origin and expansion of haplogroup H, the dominant human mitochondrial DNA lineage in West Eurasia: the Near Eastern and Caucasian perspective
10.1093/molbev/msl173 · 2007 · External reference
Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis
10.1086/339524 · 2002 · External reference
Phylogeographic analysis of mitochondrial DNA in northern Asian populations
10.1086/522933 · 2007 · External reference
Ptpn23 controls cardiac T-tubule patterning by promoting the assembly of dystrophin-glycoprotein complex
10.1161/circulationaha.123.065767 · 2024 · External reference
A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols
10.1126/science.abb2224 · 2021 · External reference
Recent Progress of Sterol Regulatory Element-binding Proteins Role in Atherosclerosis
10.1007/s11883-025-01317-8 · 2025 · External reference
Retrospective on cholesterol homeostasis: the central role of scap
10.1146/annurev-biochem-062917-011852 · 2018 · External reference
Unresolved reference
2013 · External reference
Familial combined hyperlipidemia: from molecular insights to tailored therapy
10.1097/mol.0000000000000068 · 2014 · External reference
Joint linkage and association analysis with exome sequence data implicates SLC25A40 in hypertriglyceridemia
10.1016/j.ajhg.2013.10.019 · 2013 · External reference
Unresolved reference
2017 · External reference
Identification of hub genes in unstable atherosclerotic plaque by conjoint analysis of bioinformatics
10.1016/j.lfs.2020.118517 · 2020 · External reference
Osteomodulin attenuates smooth muscle cell osteogenic transition in vascular calcification
10.1002/ctm2.682 · 2022 · External reference
The DOCK protein family in vascular development and disease
10.1007/s10456-021-09768-8 · 2021 · External reference
DOCK9 antisense RNA2 interacts with LIN28B to stabilize Wnt5a and boosts proliferation and migration of oxidized low densitylipoprotein-induced vascular smooth muscle cells
10.1080/21655979.2022.2033401 · 2022 · External reference
Identification of key lncRNAs associated with atherosclerosis progression based on public datasets
10.3389/fgene.2019.00123 · 2019 · External reference
The GTEx Consortium atlas of genetic regulatory effects across human tissues
10.1126/science.aaz1776 · 2020 · External reference
Effects of climatic factors on plasma lipid levels: a 5-year longitudinal study in a large Chinese population
10.1016/j.jacl.2016.06.009 · 2016 · External reference
Outdoor temperature is associated with serum HDL and LDL
10.1016/j.envres.2010.12.001 · 2011 · External reference
Exposure to high-temperature and high-humidity environments associated with cardiovascular mortality
10.1016/j.ecoenv.2025.117746 · 2025 · External reference
ClinVar: public archive of relationships among sequence variation and human phenotype
10.1093/nar/gkt1113 · 2014 · External reference
Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis
10.1146/annurev.immunol.19.1.197 · 2001 · External reference
Rare and common variants: twenty arguments
10.1038/nrg3118 · 2012 · External reference
ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma
10.1158/0008-5472.can-04-3327 · 2005 · External reference
The role of Abcb5 alleles in susceptibility to haloperidol-induced toxicity in mice and humans
10.1371/journal.pmed.1001782 · 2015 · External reference
Low heritability in pharmacokinetics of talinolol: a pharmacogenetic twin study on the heritability of the pharmacokinetics of talinolol, a putative probe drug of MDR1 and other membrane transporters
10.1186/s13073-016-0372-2 · 2016 · External reference
Skin rejuvenation with non-invasive pulsed electric fields
10.1038/srep10187 · 2015 · External reference
ABCB5 is a limbal stem cell gene required for corneal development and repair
10.1038/nature13426 · 2014 · External reference
Translational development of ABCB5 + dermal mesenchymal stem cells for therapeutic induction of angiogenesis in non-healing diabetic foot ulcers
10.1186/s13287-022-03156-9 · 2022 · External reference
Skin-derived ABCB5 + mesenchymal stem cells for high-medical-need inflammatory diseases: from discovery to entering clinical routine
10.3390/ijms24010066 · 2022 · External reference
Anti-inflammatory and anti-(lymph) Angiogenic properties of an ABCB5 + Limbal mesenchymal stem cell population
10.3390/ijms25179702 · 2024 · External reference
Process data of allogeneic ex vivo-expanded ABCB5 + mesenchymal stromal cells for human use: off-the-shelf GMP-manufactured donor-independent ATMP
10.1186/s13287-020-01987-y · 2020 · External reference
Clinical trial of ABCB5 + mesenchymal stem cells for recessive dystrophic epidermolysis bullosa
10.1172/jci.insight.151922 · 2021 · External reference
Process development and safety evaluation of ABCB5 + limbal stem cells as advanced-therapy medicinal product to treat limbal stem cell deficiency
10.1186/s13287-021-02272-2 · 2021 · External reference
Granzyme A from cytotoxic lymphocytes cleaves GSDMB to trigger pyroptosis in target cells
10.1126/science.aaz7548 · 2020 · External reference
GSDMB is increased in IBD and regulates epithelial restitution/repair independent of pyroptosis
10.1016/j.cell.2021.12.024 · 2022 · External reference
Pathogenic ubiquitination of GSDMB inhibits NK cell bactericidal functions
10.1016/j.cell.2021.04.036 · 2021 · External reference
AnnotSV: an integrated tool for structural variations annotation
10.1093/bioinformatics/bty304 · 2018 · External reference
A structural variation reference for medical and population genetics
10.1038/s41586-020-2287-8 · 2020 · External reference
Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility
10.1038/s41467-025-56661-9 · 2025 · External reference
Siglecs and their roles in the immune system
10.1038/nri2056 · 2007 · External reference
Siglec-5 and Siglec-14 are polymorphic paired receptors that modulate neutrophil and amnion signaling responses to group B Streptococcus
10.1084/jem.20131853 · 2014 · External reference
Immunomodulatory activity of extracellular Hsp70 mediated via paired receptors Siglec-5 and Siglec‐14
10.15252/embj.201591407 · 2015 · External reference
Neisserial adhesin A (NadA) binds human Siglec-5 and Siglec-14 with high affinity and promotes bacterial adhesion/invasion
10.1128/mbio.01107-24 · 2024 · External reference
Siglec-5 as a novel receptor mediates endothelial cells oxLDL transcytosis to promote atherosclerosis
10.1016/j.trsl.2024.09.003 · 2024 · External reference
A non-coding variant linked to metabolic obesity with normal weight affects actin remodelling in subcutaneous adipocytes
10.1038/s42255-023-00807-w · 2023 · External reference
Identifying Four Obesity Axes Through Integrative Multiomics and Imaging Analysis
10.2337/db24-1103 · 2025 · External reference
Waist circumference and waist-to-hip ratio as predictors of cardiovascular events: meta-regression analysis of prospective studies
10.1093/eurheartj/ehm026 · 2007 · External reference
Chinese guideline for lipid management (primary care version 2024)
2024 · External reference
Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel
10.1093/eurheartj/ehx144 · 2017 · External reference
Heart disease and stroke statistics–2017 update
2017 · External reference
The power of genetic diversity in genome-wide association studies of lipids
10.1038/s41586-021-04064-3 · 2021 · External reference
Exome chip meta-analysis identifies novel loci and East Asian–specific coding variants that contribute to lipid levels and coronary artery disease
10.1038/ng.3978 · 2017 · External reference
dbVar and DGVa: public archives for genomic structural variation
2013 · External reference
Unresolved reference
2013 · External reference
A framework for variation discovery and genotyping using next-generation DNA sequencing data
10.1038/ng.806 · 2011 · External reference
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
10.1101/gr.107524.110 · 2010 · External reference
Accurate, scalable and integrative haplotype estimation
10.1038/s41467-019-13225-y · 2019 · External reference
PLINK: a tool set for whole-genome association and population-based linkage analyses
10.1086/519795 · 2007 · External reference
Robust relationship inference in genome-wide association studies
10.1093/bioinformatics/btq559 · 2010 · External reference
fastp: an ultra-fast all-in-one FASTQ preprocessor
10.1093/bioinformatics/bty560 · 2018 · External reference
HISAT: a fast spliced aligner with low memory requirements
10.1038/nmeth.3317 · 2015 · External reference
Unresolved reference
2009 · External reference
StringTie enables improved reconstruction of a transcriptome from RNA-seq reads
10.1038/nbt.3122 · 2015 · External reference
Ballgown bridges the gap between transcriptome assembly and expression analysis
10.1038/nbt.3172 · 2015 · External reference
Transcript-level expression analysis of RNA-seq experiments with HISAT, StringTie and Ballgown
10.1038/nprot.2016.095 · 2016 · External reference
The ensembl variant effect predictor
10.1186/s13059-016-0974-4 · 2016 · External reference
Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
10.1038/nbt.2835 · 2014 · External reference
Genetic modifiers of rare variants in monogenic developmental disorder loci
10.1038/s41588-024-01710-0 · 2024 · External reference
KOBAS-i: intelligent prioritization and exploratory visualization of biological functions for gene enrichment analysis
10.1093/nar/gkab447 · 2021 · External reference
KEGG: kyoto encyclopedia of genes and genomes
10.1093/nar/28.1.27 · 2000 · External reference
Estimating genetic load from 5000 Chinese exomes
2025 · External reference
A fast and simple method for detecting identity-by-descent segments in large-scale data
10.1016/j.ajhg.2020.02.010 · 2020 · External reference
Probabilistic estimation of identity by descent segment endpoints and detection of recent selection
10.1016/j.ajhg.2020.09.010 · 2020 · External reference
Population structure and eigenanalysis
10.1371/journal.pgen.0020190 · 2006 · External reference
Unresolved reference
1984 · External reference
Fast model-based estimation of ancestry in unrelated individuals
10.1101/gr.094052.109 · 2009 · External reference
HaploGrep 2: mitochondrial haplogroup classification in the era of high-throughput sequencing
10.1093/nar/gkw233 · 2016 · External reference
Y-LineageTracker: a high-throughput analysis framework for Y-chromosomal next-generation sequencing data
10.1186/s12859-021-04057-z · 2021 · External reference
Genome-wide detection and characterization of positive selection in human populations
10.1038/nature06250 · 2007 · External reference
selscan: an efficient multithreaded program to perform EHH-based scans for positive selection
10.1093/molbev/msu211 · 2014 · External reference
K. A map of recent positive selection in the human genome
10.1371/journal.pbio.0040072 · 2006 · External reference
The variant call format and VCFtools
10.1093/bioinformatics/btr330 · 2011 · External reference
Unresolved reference
2019 · External reference
Improving polygenic prediction in ancestrally diverse populations
10.1038/s41588-022-01054-7 · 2022 · External reference
CrossMap: a versatile tool for coordinate conversion between genome assemblies
10.1093/bioinformatics/btt730 · 2014 · External reference
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
10.1038/s41588-020-0676-4 · 2020 · External reference
Unresolved reference
External reference
