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Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.

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第一作者： Efthalia,Moustakli

第一单位： Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 451 10 Ioannina, Greece.

作者： Efthalia,Moustakli ^[1] ; Panagiotis,Christopoulos ^[2] ; Anastasios,Potiris ^[3] ; Athanasios,Zikopoulos ^[3] ; Despoina,Mavrogianni ^[4] ; Grigorios,Karampas ^[2] ; Nikolaos,Kathopoulis ^[4] ; Ismini,Anagnostaki ^[3] ; Ekaterini,Domali ^[4] ; Alexandros T,Tzallas ^[5] ; Peter,Drakakis ^[3] ; Sofoklis,Stavros ^[3]

作者单位： Laboratory of Medical Genetics, Faculty of Medicine, School of Health Sciences, University of Ioannina, 451 10 Ioannina, Greece. ^[1] Second Department of Obstetrics and Gynecology, University Hospital "Aretaieion", Medical School, National and Kapodistrian University of Athens, 115 28 Athens, Greece. ^[2] Third Department of Obstetrics and Gynecology, University General Hospital "ATTIKON", Medical School, National and Kapodistrian University of Athens, 124 62 Athens, Greece. ^[3] First Department of Obstetrics and Gynecology, Alexandra Hospital, Medical School, National and Kapodistrian University of Athens, 115 28 Athens, Greece. ^[4] Department of Informatics and Telecommunications, University of Ioannina, Kostakioi, 471 50 Arta, Greece. ^[5]

关键词 bioinformatics clinical genomics copy number variations genetic diagnosis genome sequencing machine learning structural variants

DOI 10.3390/diagnostics15141803

PMID 40722552

发布时间 2025-08-01

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Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.

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Long-Read Sequencing and Structural Variant Detection: Unlocking the Hidden Genome in Rare Genetic Disorders.

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