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Article

Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.

Clinical genetics - 1 Oct 2025

Amin Asmaa K, El-Dessouky Sara H, Elmaksoud Marwa Abd, Nabil Amira, Aboulghar Mona M, Senousy Sameh M, Elbagoury Nagham M, Abdel-Aleem Asmaa F, Essawi Mona L, El-Awady Heba A, Ashaat Engy A, Issa Mahmoud Y, Alaadin Khoushoua, Matsa Lova S, Issa Noha M, Zaki Maha S, Eid Maha Mohamed, Sharaf-Eldin Wessam E, Abdalla Ebtesam

Abstract excerpt

Copy number variants (CNVs) contribute significantly to the pathogenicity of rare genetic diseases and tend to have a more severe effect on phenotype compared to single nucleotide variants (SNVs). In the past decades, exome sequencing (ES) has proven valuable input in the characterization of underlying genetic defects. Our aim was to investigate the impact of integrating CNV analysis tools into standard ES...

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PMID: 40302399
DOI: 10.1111/cge.14764

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