{"doi":"10.17615/nngh-g785","title":"Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations","abstract":"High-throughput DNA sequencing provides an unprecedented opportunity to discover rare genetic variants associated with complex diseases and traits. However, sequencing a large number of subjects is prohibitively expensive. It is common to select subjects for sequencing from the cohorts that have collected genotyping array data. We impute the sequencing data from the array data for the cohort members who are not selected for sequencing and perform gene-level association tests for rare variants by properly combining the observed genotypes for sequenced subjects and the imputed genotypes for nonsequenced subjects. This integrative analysis is substantially more powerful than the use of sequencing data alone and can accelerate the search for disease-causing mutations.","journal":"UNC Libraries","year":2020,"id":117949,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":22.178386323199504,"corpus_rank":9377,"citation_count":1,"citer_count":1,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6348,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":65765,"name":"D. Y. Lin","orcid":"0000-0002-0150-3115","position":1,"is_corresponding":false},{"id":24805,"name":"Yun Li","orcid":"0000-0002-9275-4189","position":2,"is_corresponding":false},{"id":24941,"name":"Paul L. Auer","orcid":"0000-0003-1735-8044","position":3,"is_corresponding":false},{"id":272293,"name":"Yi‐Juan Hu","orcid":"0000-0003-2171-9041","position":0,"is_corresponding":true}],"reference_count":0,"raw_metadata":null,"created_at":"2026-07-18T23:13:54.951170Z","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,"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":[]}