Development of a novel next-generation sequencing panel for diagnosis of quantitative spermatogenic impairment.

Abstract excerpt

PURPOSE: To develop and assess a novel custom next-generation sequencing (NGS) panel for male infertility genetic diagnosis. METHODS: A total of 241 subjects with diagnosis of idiopathic infertility ranging from azoospermia to normozoospermia were sequenced by a custom NGS panel including AR, FSHB, FSHR, KLHL10, NR5A1, NANOS1, SEPT12, SYCP3, TEX11 genes. Variants with minor allele frequency < 1% were confirmed by...

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• Azoospermia
• Infertility, Male
• Intracellular Signaling Peptides and Proteins
• Receptors, Androgen
• Receptors, FSH