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Etiology

A systematic review on the genetics of male infertility in the era of next-generation sequencingFootnote

, , , , , & show all
Pages 53-64 | Received 01 Oct 2017, Accepted 11 Dec 2017, Published online: 18 Mar 2019

Figures & data

Fig. 1 Preferred reporting items for systematic reviews and meta-analyses (PRISMA) flowchart of review methodology. PubMed was searched for all articles containing NGS studies of infertility as described in the methods, limiting to the organism [Homo sapiens] and to studies published after 2010. A total of 251 unique papers were found by this search strategy, and were evaluated by at least two scientists to determine those that were germane. Studies that did not use NGS technologies, which were on female infertility, which had results from animal models, or which evaluated male patients with known developmental syndromes (e.g., PCD, Kallmann syndrome [Citation24]) were eliminated. So were studies evaluating genetics by GWAS or by single-locus interrogation (e.g., Sanger, TaqMan). Finally, studies using other omics technologies were eliminated. Altogether, 23 unique papers adhered to the inclusion criteria; all genes discovered in these studies appear in .

Table 1 Genetic variants discovered in infertile men by NGS technologies.