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Article

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience.

Andrology - 1 Jul 2025

Oud Manon S, de Leeuw Nicole, Smeets Dominique F C M, Ramos Liliana, van der Heijden Godfried W, Timmermans Raoul G J, van de Vorst Maartje, Hofste Tom, Kempers Marlies J E, Stokman Marijn F, D'Hauwers Kathleen W M, Faas Brigitte H W, Westra Dineke

Abstract excerpt

BACKGROUND: Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended. OBJECTIVES: To determine whether exome sequencing (ES) with combined copy number variant (CNV) and single nucleotide variant (SNV) analysis is a...

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Share to Azoospermia
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

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Share to Polymorphism, Single Nucleotide

Source

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Identifiers

PMID: 39180390
DOI: 10.1111/andr.13742
PMCID: PMC12183012

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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