A map of human genome variation from population-scale sequencing

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  2026 Nature Aging article Medicine Dementia and Cognitive Impairment Research Open access

  4

  citations
• The blood metabolome of cognitive function and brain health in middle-aged adults – influences of genes, gut microbiome, and exposome

  2024 medRxiv preprint Biochemistry, Genetics and Molecular Biology Metabolomics and Mass Spectrometry Studies Open access

  4

  citations
• The impact of schizophrenia genetic load and heavy cannabis use on the risk of psychotic disorder in the EU-GEI case-control and UK Biobank studies

  2024 Psychological Medicine article Medicine Schizophrenia research and treatment Open access

  15

  citations
• Mapping the aetiological foundations of the heart failure spectrum using human genetics

  2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  6

  citations
• GWAS of random glucose in 476,326 individuals provide insights into diabetes pathophysiology, complications and treatment stratification

  2023 Nature Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  107

  citations
• GVC: efficient random access compression for gene sequence variations

  2023 BMC Bioinformatics article Computer Science Algorithms and Data Compression Open access

  2

  citations
• Molecular Profile of MSH6-Associated Colorectal Carcinomas Shows Distinct Features From Other Lynch Syndrome–Associated Colorectal Carcinomas

  2023 Gastroenterology article Medicine Genetic factors in colorectal cancer Open access

  27

  citations
• Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases

  2022 Journal of Medical Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  37

  citations
• Haplotype-resolved Chinese male genome assembly based on high-fidelity sequencing

  2022 Fundamental Research article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access

  20

  citations
• Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation

  2021 Circulation Genomic and Precision Medicine article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  15

  citations
• Mapping the human genetic architecture of COVID-19

  2021 Nature article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  1,130

  citations
• Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease

  2021 Nature Genetics article Medicine Parkinson's Disease Mechanisms and Treatments Open access

  143

  citations
• Random glucose GWAS in 493,036 individuals provides insights into diabetes pathophysiology, complications and treatment stratification

  2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  10

  citations
• Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage

  2021 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  23

  citations
• Operational Considerations regarding On-Demand Air Mobility: A Literature Review and Research Challenges

  2021 Journal of Advanced Transportation article Engineering Air Traffic Management and Optimization Open access

  40

  citations
• Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐ BRCA1 /2 sib trios affected with breast cancer

  2020 International Journal of Cancer article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  2

  citations
• A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access cited by 1 patent

  48

  citations
• Genome-wide association and Mendelian randomisation analysis provide insights into the pathogenesis of heart failure

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  845

  citations

18 results