{"doi":"10.1101/pdb.top068163","title":"Introduction to Genetic Association Studies","abstract":"<jats:p>Genetic association studies are used to find candidate genes or genome regions that contribute to a specific disease by testing for a correlation between disease status and genetic variation. This article provides a broad outline of the design and analysis of such studies, focusing on case–control studies in candidate genes or regions.</jats:p>","journal":"Cold Spring Harbor Protocols","year":2012,"id":14375,"datarank":8.110962660001979,"base_score":5.3471075307174685,"endowment":5.3471075307174685,"self_citation_contribution":0.8020661296076204,"citation_network_contribution":7.3088965303943585,"self_endowment_contribution":0.8020661296076204,"citer_contribution":7.3088965303943585,"corpus_percentile":null,"corpus_rank":null,"citation_count":209,"citer_count":200,"citers_with_citation_signal":153,"citers_with_endowment":153,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":62471,"name":"Jo Knight","orcid":"0000-0002-7148-1660","position":1,"is_corresponding":false},{"id":113823,"name":"Cathryn M. Lewis","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"base_score":5.3471075307174685,"endowment":5.3471075307174685,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"22383645","pmcid":null,"openalex_id":"https://openalex.org/W2152579567","authors":[],"funders":[],"total_grants":0,"fwci":null,"citation_percentile":null,"influential_citations":5,"citation_trend":[{"year":2012,"count":1},{"year":2013,"count":18},{"year":2014,"count":33},{"year":2015,"count":29},{"year":2016,"count":17},{"year":2017,"count":14},{"year":2018,"count":16},{"year":2019,"count":19},{"year":2020,"count":17},{"year":2021,"count":12},{"year":2022,"count":5},{"year":2023,"count":11},{"year":2024,"count":11},{"year":2025,"count":3},{"year":2026,"count":3}],"oa_status":"bronze","license":null,"oa_locations":[{"url":"http://cshprotocols.cshlp.org/content/2012/3/pdb.top068163.full.pdf","host_type":"journal"},{"url":"http://cshprotocols.cshlp.org/content/2012/3/pdb.top068163.full.pdf","host_type":"BRONZE"},{"url":"http://cshprotocols.cshlp.org/content/2012/3/pdb.top068163.full.pdf","host_type":"publisher"},{"url":"https://syndication.highwire.org/content/doi/10.1101/pdb.top068163","host_type":"publisher"},{"url":"https://doi.org/10.1101/pdb.top068163","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/22383645","host_type":"repository"},{"url":"https://eprints.lancs.ac.uk/id/eprint/79929/","host_type":"repository"},{"url":"https://kclpure.kcl.ac.uk/portal/en/publications/d685e303-f7ea-499b-9da9-1794a5719df8","host_type":"repository"}],"fields_of_study":["Genetic Associations and Epidemiology","Genomics and Rare Diseases","Genomic variations and chromosomal abnormalities","Biology","Medicine","Case-Control Studies","Genetic Association Studies","Genetic Predisposition to Disease","Humans"],"mesh_terms":["Humans","Case-Control Studies","Genetic Predisposition to Disease","Genetic Association Studies"],"keywords":["Candidate gene","Genetic association","Biology","Genetic variation","Genome-wide association study","Genetics","Gene","Computational biology","Evolutionary biology","Disease","Genotype","Single-nucleotide polymorphism","Medicine"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-06-01T09:15:03.074186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}