SynthesisPloS one2025
Diagnostic yield of exome sequencing in nonobstructive azoospermia (NOA): A systematic review and meta-analysis.
Synthesis in PloS one, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed.
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Azoospermia is considered as the most severe form of male infertility. The application value of exome sequencing (ES) in males with non-obstructive azoospermia (NOA) remains unclear. This study aims to review the known genetic causes of NOA and evaluate the diagnostic yield of ES in males diagnosed with idiopathic NOA. We performed a systematic database search in Ovid MEDLINE, EMBASE, CINAHL, Scopus, Cochrane Central Register of Controlled Trials, and Web of Science from database inception to March 2025. Two independent reviewers assessed the literature and included those studies investigating the utility of ES testing in men diagnosed with NOA and fulfilling the eligibility criteria. The pooled diagnostic yield was calculated using single-proportion analysis with random-effects modeling, and confidence intervals (CI) were estimated using the Clopper-Pearson exact method. A total of nine studies were included, and the qualities were assessed to be moderate to high via the modified STARD. Among the cohorts analyzed (nine studies comprising 1,728 individuals with NOA), the overall diagnostic yield of ES testing was 15% (95% CI: 10%-20%; low-certainty evidence). Of the 270 positive cases identified through ES testing, mutations in 262 genes were detected, with AR, TEX11, FANCM, TDRD9, PNLDC1, M1AP, FBXO15, and DMRT1 being the most frequently observed. Among these cases, only 11.11% (5/45) reported successful testicular sperm extraction. The considerable heterogeneity indicates that the pooled prevalence estimates of the diagnostic yield of ES testing in NOA-approximately 15%-may overestimate the true diagnostic rate in the general NOA population. This estimate should thus be interpreted as an average across diverse clinical and methodological contexts, rather than a precise point estimate reflecting a uniform underlying effect. Future research, particularly large-scale studies using standardized protocols, is crucial to generate more accurate, reliable, and generalizable estimates of the diagnostic yield of ES testing in NOA.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.