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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.
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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  Data: Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Amin+AK%22">Amin AK</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Dessouky+SH%22">El-Dessouky SH</searchLink>; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elmaksoud+MA%22">Elmaksoud MA</searchLink>; Department of Pediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Nabil+A%22">Nabil A</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Aboulghar+MM%22">Aboulghar MM</searchLink>; Department of Obstetrics and Gynecology, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Senousy+SM%22">Senousy SM</searchLink>; Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Elbagoury+NM%22">Elbagoury NM</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdel-Aleem+AF%22">Abdel-Aleem AF</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22El-Awady+HA%22">El-Awady HA</searchLink>; Pediatrics Department, Faculty of Medicine, Fayoum University Hospitals, Faiyum, Egypt.<br /><searchLink fieldCode="AU" term="%22Ashaat+EA%22">Ashaat EA</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Issa+MY%22">Issa MY</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Alaadin+K%22">Alaadin K</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Matsa+LS%22">Matsa LS</searchLink>; Genomic Precision Diagnostic Department, Igenomix, Paterna, Spain.<br /><searchLink fieldCode="AU" term="%22Issa+NM%22">Issa NM</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Department of Genetic Medicine, Faculty of Medicine, King Abdul Aziz University, Jeddah, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Zaki+MS%22">Zaki MS</searchLink>; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Eid+MM%22">Eid MM</searchLink>; Human Cytogenetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Sharaf-Eldin+WE%22">Sharaf-Eldin WE</searchLink>; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Abdalla+E%22">Abdalla E</searchLink>; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Oct; Vol. 108 (4), pp. 433-449. <i>Date of Electronic Publication: </i>2025 Apr 29.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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