Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.

ABSTRACT:

Background

Genetic causes that lead to spermatogenetic failure in patients with nonobstructive azoospermia (NOA) have not been yet completely established.

Objective

To identify low-frequency NOA-associated single nucleotide variants (SNVs) using whole-genome sequencing (WGS).

Materials and methods

Men with various types of NOA (n = 39), including samples that had been previously tested with whole-exome sequencing (WES; n = 6) and did not result in diagnostic conclusions. Variants were annotated using the Ensembl Variant Effect Predictor, utilizing frequencies from GnomAD and other databases to provide clinically relevant information (ClinVar), conservation scores (phyloP), and effect predictions (i.e., MutationTaster). Structural protein modeling was also performed.

SUBMITTER: Malcher A 

PROVIDER: S-EPMC9826517 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature