Targeted Next-Generation Sequencing Identifies Novel Sequence Variations of Genes Associated with Nonobstructive Azoospermia in the Han Population of Northeast China.

ABSTRACT: BACKGROUND This study aimed to screen common and low-frequency variants of nonobstructive azoospermia (NOA)-associated genes, and to construct a database for NOA-associated single nucleotide variants (SNVs). MATERIAL AND METHODS Next-generation sequencing of 466 NOA-associated genes was performed in 34 patients with NOA (mean age, 29.06±4.49 years) and 40 sperm donors (mean age, 25.08±5.75 years) from the Han population of northeast China. The SNV database was constructed by summarizing NOA non-negatively-associated SNVs showing statistical differences between NOA cases and controls, and then selecting low-frequency variants using Baylor's pipeline, to identify statistically valid SNVs. RESULTS There were 65 SNVs identified that were significantly different between both groups (p<0.05). Fi

SUBMITTER: Liu X 

PROVIDER: S-EPMC6691750 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature