{"doi":"10.1038/nature04226","title":"A haplotype map of the human genome","abstract":"Inherited genetic variation has a critical but as yet largely uncharacterized role in human disease. Here we report a public database of common variation in the human genome: more than one million single nucleotide polymorphisms (SNPs) for which accurate and complete genotypes have been obtained in 269 DNA samples from four populations, including ten 500-kilobase regions in which essentially all information about common DNA variation has been extracted. These data document the generality of recombination hotspots, a block-like structure of linkage disequilibrium and low haplotype diversity, leading to substantial correlations of SNPs with many of their neighbours. We show how the HapMap resource can guide the design and analysis of genetic association studies, shed light on structural variation and recombination, and identify loci that may have been subject to natural selection during human evolution.","journal":"Nature","year":2005,"id":5334,"datarank":29.225912504884523,"base_score":8.677780256064185,"endowment":8.677780256064185,"self_citation_contribution":1.301667038409628,"citation_network_contribution":27.924245466474893,"self_endowment_contribution":1.301667038409628,"citer_contribution":27.924245466474893,"corpus_percentile":99.18633034987795,"corpus_rank":11,"citation_count":5917,"citer_count":200,"citers_with_citation_signal":200,"citers_with_endowment":200,"datacite_reuse_total":25,"is_dataset":true,"is_dataset_confidence":0.9534,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2005-10-01","fair_score":77.9167,"fair_percentile":98.7,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":53081,"name":"The International HapMap Consortium","orcid":null,"position":0,"is_corresponding":true}],"reference_count":103,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":"16255080","pmcid":"PMC1880871","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":"hybrid","license":"public-domain","views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":100.0,"fair_a":70.0,"fair_i":100.0,"fair_r":41.6667,"fair_zscore":1.1681,"fair_rationale":{"fair_score":77.92,"has_llm":false,"dimensions":{"F":{"name":"Findable","score":100.0,"criteria":[{"key":"f_has_doi","label":"Has a persistent DOI","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"DOI present","rationale":null},{"key":"f_repository_presence","label":"Indexed in repositories / literature DBs","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"datacite=25, pmcid=True, pmid=True","rationale":null},{"key":"f_persistent_ids","label":"Resolvable scholarly identifiers (OpenAlex)","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"OpenAlex id present","rationale":null}]},"A":{"name":"Accessible","score":70.0,"criteria":[{"key":"a_open_access","label":"Open Access / files deposited","kind":"deterministic","weight":1.5,"fraction":0.5,"signal":"files/OA location present but not flagged OA","rationale":null},{"key":"a_retrievable","label":"Free full text retrievable","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"16 OA location(s)","rationale":null}]},"I":{"name":"Interoperable","score":100.0,"criteria":[{"key":"i_linked_data","label":"Linked datasets / DataCite relations","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"linked_datasets=25, datacite=25","rationale":null},{"key":"i_standard_ids","label":"References data via standard accessions","kind":"deterministic","weight":1.0,"fraction":1.0,"signal":"accessions=1, trials=0","rationale":null}]},"R":{"name":"Reusable","score":41.67,"criteria":[{"key":"r_license","label":"Clear, open reuse license","kind":"deterministic","weight":1.5,"fraction":0.5,"signal":"license present (public-domain)","rationale":null},{"key":"r_downloads","label":"Demonstrated reuse (downloads)","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"downloads=0","rationale":null},{"key":"r_version","label":"Versioned / maintained","kind":"deterministic","weight":0.5,"fraction":0.0,"signal":"no version chain","rationale":null},{"key":"r_dataset","label":"Classified as a data resource","kind":"deterministic","weight":0.5,"fraction":1.0,"signal":"is_dataset","rationale":null}]}},"suggestions":["Maintain explicit versioning for the dataset.","Make the paper/data Open Access or deposit the files in an open repository.","Attach a clear, open reuse license (e.g. CC-BY or CC0)."],"model":null,"agent_version":"fair_agent_v3","fulltext_source":"unpaywall_pdf"},"fair_model":null,"fair_agent_version":"fair_agent_v3","fair_fulltext_source":"unpaywall_pdf","fair_has_llm":false,"fair_computed_at":"2026-06-28T15:04:03.958999Z","clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}