{"doi":"10.1016/j.cell.2024.03.004","title":"A genome-wide spectrum of tandem repeat expansions in 338,963 humans","abstract":"The Genome Aggregation Database (gnomAD), widely recognized as the gold-standard reference map of human genetic variation, has largely overlooked tandem repeat (TR) expansions, despite the fact that TRs constitute ∼6% of our genome and are linked to over 50 human diseases. Here, we introduce the TR-gnomAD (https://wlcb.oit.uci.edu/TRgnomAD), a biobank-scale reference of 0.86 million TRs derived from 338,963 whole-genome sequencing (WGS) samples of diverse ancestries (39.5% non-European samples). TR-gnomAD offers critical insights into ancestry-specific disease prevalence using disparities in TR unit number frequencies among ancestries. Moreover, TR-gnomAD is able to differentiate between common, presumably benign TR expansions, which are prevalent in TR-gnomAD, from those potentially pathogenic TR expansions, which are found more frequently in disease groups than within TR-gnomAD. Together, TR-gnomAD is an invaluable resource for researchers and physicians to interpret TR expansions in individuals with genetic diseases.","journal":"Cell","year":2024,"id":419602,"datarank":1.1354861856237903,"base_score":3.6888794541139363,"endowment":3.6888794541139363,"self_citation_contribution":0.5533319181170905,"citation_network_contribution":0.5821542675066999,"self_endowment_contribution":0.5533319181170905,"citer_contribution":0.5821542675066999,"corpus_percentile":81.98344550166318,"corpus_rank":2330,"citation_count":39,"citer_count":38,"citers_with_citation_signal":25,"citers_with_endowment":25,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.9478,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2024-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1209591,"name":"Wenbin Ye","orcid":"0000-0002-7811-2710","position":1,"is_corresponding":false},{"id":637099,"name":"Jason Sheng Li","orcid":"0000-0003-0485-7194","position":2,"is_corresponding":false},{"id":86014,"name":"Jingyi Jessica Li","orcid":"0000-0002-9288-5648","position":3,"is_corresponding":false},{"id":282709,"name":"Éric Vilain","orcid":"0000-0002-5557-3709","position":4,"is_corresponding":false},{"id":368892,"name":"Tamer Sallam","orcid":"0000-0001-7144-7393","position":5,"is_corresponding":false},{"id":263249,"name":"Wei Li","orcid":"0000-0001-9931-5990","position":6,"is_corresponding":false},{"id":52933,"name":"Ya Cui","orcid":"0000-0003-1574-0928","position":0,"is_corresponding":true}],"reference_count":29,"raw_metadata":null,"created_at":"2026-07-19T01:57:19.937291Z","pmid":"38582080","pmcid":"PMC11065452","fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}