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Updated: Jun 13, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
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Intermediate Copy Number and Clinical Utility in Embryo Selection (Reply to Letter-to-the-Editor)

Antonio Capalbo1, Emily Mounts2, Chaim Jalas2

  • 1Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), "G. D'Annunzio" University of Chieti-Pescara, Chieti, Italy,.

American Journal of Obstetrics and Gynecology
|June 11, 2026
PubMed
Abstract

No abstract available in PubMed .

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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...