Research map: Human genetics across levels of biological organization

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  1. The Genotype-Tissue Expression (GTEx) project. · 2013 · 10212 citations · Cited by this paper
  2. Nutrition signals the brain to reactivate quiescent neural stem cells · 2026 · Related
  3. Comparison of Sociodemographic and Health-Related Characteristics of UK Biobank Participants With Those of the General Population · Anna Fry · 2017 · 4403 citations · Cited by this paper
  4. Tools and tactics for studying alternative splicing · 2026 · Related
  5. A subcellular map of the human proteome · Peter J. Thul · 2017 · 3049 citations · Cited by this paper
  6. Towards quantifying immune diversity through HLA genomics · 2026 · Related
  7. Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression · Urmo Võsa · 2021 · 2347 citations · Cited by this paper
  8. Spatial top-down proteomics for the functional characterization of human kidney · 2025 · Related
  9. Mendelian randomization · Eleanor C. M. Sanderson · 2022 · 2293 citations · Cited by this paper
  10. Embracing non-linearity in human ageing · 2026 · Related
  11. Accurate proteome-wide missense variant effect prediction with AlphaMissense · Jun Cheng · 2023 · 2246 citations · Cited by this paper
  12. Genomic, epigenomic and transcriptomic regulation of cellular senescence · 2026 · Related
  13. Genome-wide association studies · Emil Uffelmann · 2021 · 1878 citations · Cited by this paper
  14. Genetic analysis of imaging-derived phenotypes · 2026 · Related
  15. Cells of the adult human heart · Monika Litviňuková · 2020 · 1848 citations · Cited by this paper
  16. Importance of Including Non-European Populations in Large Human Genetic Studies to Enhance Precision Medicine · 2022 · Related
  17. Plasma proteomic associations with genetics and health in the UK Biobank · Benjamin B. Sun · 2023 · 1726 citations · Cited by this paper
  18. Mapping the Multiscale Proteomic Organization of Cellular and Disease Phenotypes · 2024 · Related
  19. Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis · Christopher S. Smillie · 2019 · 1542 citations · Cited by this paper
  20. Gene regulatory networks: from correlative models to causal explanations · 2026 · Related
  21. Deep mutational scanning: a new style of protein science · Douglas M. Fowler · 2014 · 1518 citations · Cited by this paper
  22. Effective gene expression prediction from sequence by integrating long-range interactions · Žiga Avsec · 2021 · 1422 citations · Cited by this paper
  23. Basset: learning the regulatory code of the accessible genome with deep convolutional neural networks · David R. Kelley · 2016 · 1210 citations · Cited by this paper
  24. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome · Edward L. Huttlin · 2021 · 1034 citations · Cited by this paper
  25. Genome-wide association studies of brain imaging phenotypes in UK Biobank · Lloyd T. Elliott · 2018 · 940 citations · Cited by this paper
  26. Associating Genes and Protein Complexes with Disease via Network Propagation · Oron Vanunu · 2010 · 926 citations · Cited by this paper
  27. Mendelian Randomization: Concepts and Scope · Rebecca Claire Richmond · 2021 · 873 citations · Cited by this paper
  28. RNA splicing is a primary link between genetic variation and disease · Yang Li · 2016 · 788 citations · Cited by this paper
  29. Inherited causes of clonal haematopoiesis in 97,691 whole genomes · Alexander G. Bick · 2020 · 768 citations · Cited by this paper
  30. Network propagation: a universal amplifier of genetic associations · Lenore Cowen · 2017 · 754 citations · Cited by this paper
  31. Genetic identification of brain cell types underlying schizophrenia · Nathan Skene · 2018 · 734 citations · Cited by this paper
  32. Prioritizing candidate disease genes by network-based boosting of genome-wide association data · Insuk Lee · 2011 · 722 citations · Cited by this paper
  33. ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries · Paul M. Thompson · 2020 · 704 citations · Cited by this paper
  34. Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders · Nidhi Sahni · 2015 · 657 citations · Cited by this paper
  35. An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank · Stephen M. Smith · 2021 · 613 citations · Cited by this paper
  36. Predicting disease genes using protein–protein interactions · Martin Oti · 2006 · 591 citations · Cited by this paper
  37. Deep Visual Proteomics defines single-cell identity and heterogeneity · Andreas Mund · 2022 · 586 citations · Cited by this paper
  38. Combining evidence from Mendelian randomization and colocalization: Review and comparison of approaches · Verena Zuber · 2022 · 584 citations · Cited by this paper
  39. Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes · Jeremy Schwartzentruber · 2021 · 575 citations · Cited by this paper

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