{"doi":"10.1155/crig/5109434","title":"Long‐Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia","abstract":"Primary ciliary dyskinesia (PCD) is a rare, inherited disease resulting from abnormal structure and/or function of cilia. To date, pathogenic variants in over 50 genes have been reported as causes of PCD. One of the genes, HYDIN , presents a diagnostic challenge due to the existence of HYDIN2 , a highly homologous pseudogene that significantly complicates accurate molecular diagnosis. Here, we present a 43‐year‐old female with a clinical diagnosis of PCD seeking molecular diagnosis underlying her disease. Short‐read genome sequencing detected two potentially pathogenic HYDIN variants (c.5416C > T and c.3786‐1G > T), but clinical validation was hindered due to the pseudogene overlap. Using clinical long‐read genome sequencing (lrGS), we confirmed the presence of both HYDIN pathogenic variants and a trans configuration, establishing the molecular diagnosis for this patient. This case highlights the promise of lrGS in diagnosing HYDIN ‐related PCD and demonstrates that offering lrGS to PCD patients, especially those with suspected HYDIN variants, could enhance diagnostics, disease management, and genetic counseling.","journal":"Case Reports in Genetics","year":2025,"id":583182,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.9569,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":95754,"name":"Morgan N Similuk","orcid":"0000-0002-0403-2689","position":1,"is_corresponding":false},{"id":275113,"name":"Laura M. Amendola","orcid":"0000-0002-5506-6168","position":2,"is_corresponding":false},{"id":536828,"name":"Katie L. Lewis","orcid":"0000-0002-2292-6854","position":3,"is_corresponding":false},{"id":283228,"name":"Magdalena Walkiewicz","orcid":null,"position":4,"is_corresponding":false},{"id":252548,"name":"Mari Tokita","orcid":null,"position":5,"is_corresponding":false},{"id":493645,"name":"Rajarshi Ghosh","orcid":"0000-0001-7368-8940","position":6,"is_corresponding":false},{"id":632960,"name":"Andrew Lipton","orcid":"0000-0003-4937-4145","position":7,"is_corresponding":false},{"id":1495428,"name":"Liora H Feshbach","orcid":"0009-0000-7978-6621","position":0,"is_corresponding":true}],"reference_count":13,"raw_metadata":null,"created_at":"2026-07-19T02:59:03.725721Z","pmid":"41346656","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":[]}