Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.
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| Title: | Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing. |
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| Authors: | Amin AK; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., El-Dessouky SH; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elmaksoud MA; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Nabil A; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Aboulghar MM; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt., Senousy SM; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Elbagoury NM; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdel-Aleem AF; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Essawi ML; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El-Awady HA; Pediatrics Department, Faculty of Medicine, Fayoum University Hospitals, Faiyum, Egypt., Ashaat EA; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alaadin K; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt., Matsa LS; Genomic Precision Diagnostic Department, Igenomix, Paterna, Spain., Issa NM; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Department of Genetic Medicine, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Eid MM; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Sharaf-Eldin WE; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Abdalla E; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt. |
| Source: | Clinical genetics [Clin Genet] 2025 Oct; Vol. 108 (4), pp. 433-449. Date of Electronic Publication: 2025 Apr 29. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14764 |
