The landscape of structural variants in male infertility identified by optical genome mapping

Abstract excerpt

<h4>STUDY QUESTION</h4> [Do structural genomic variants, that can be identified by using optical genome mapping, contribute to male infertility?] <h4>SUMMARY ANSWER</h4> [By using optical genome mapping we can identify several types of structural variants, both known and new, that may contribute to male infertility.] <h4>WHAT IS KNOWN ALREADY</h4> [Traditional approaches such as karyotyping, CFTR and chromosom...

Topics

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• Aneuploidy
• Azoospermia
• Chromosome Deletion
• Chromosomes, Human, Y
• Exome Sequencing
• Genetic Predisposition to Disease
• Infertility, Male
• Whole Genome Sequencing

Identifiers and source

Literature Corpus work

8ff87f7e-2545-5600-922a-d15789301442

DOI

10.64898/2026.02.27.26347236