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HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.

Autor: Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Li H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Muzny D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Yesil G; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul 34093, Turkey., Elçioglu NH; Department of Pediatric Genetics, Marmara University Medical Faculty, Istanbul and Eastern Mediterranean University Faculty of Medicine, Mersin 10, Turkey., Gezdirici A; Department of Medical Genetics, University of Health Sciences, Basaksehir Cam and Sakura City Hospital, 34480 Istanbul, Turkey., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX 77030, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pacific Northwest Research Institute, Seattle, WA 98122, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Gambin T; Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland.; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2024 Feb 28; Vol. 52 (4), pp. e18.