Whole-Exome Sequencing Data for Semen Quality in a Russian Multiethnic Population

157 whole-exome sequenced samples from three Russian ethnic groups (Slavs, Buryats, Yakuts) are analyzed for associations with semen quality. The dataset, created by Semyon Kolmykov and last updated in April 2026, includes 95 samples from men with pathozoospermia and 62 with normospermia. It identifies nine potential SNP markers in seven testis-expressed genes for subsequent verification in a larger cohort.

Use Cases

• Identify genetic variants associated with impaired semen quality based on whole-exome sequencing data.
• Compare allele frequencies and genetic associations across Slavic, Buryat, and Yakut ethnic groups.
• Prioritize candidate genes for male infertility by filtering for variants in testis-expressed genes involved in cell proliferation and meiosis.
• Validate potential SNP markers for pathozoospermia in independent population samples.

Strengths

• Includes 157 whole-exome sequenced samples with defined clinical phenotypes (95 pathozoospermia, 62 normospermia).
• Covers three distinct ethnic groups within Russia (59 Slavs, 49 Buryats, 49 Yakuts), enabling cross-population analysis.
• Analysis identified nine specific SNP markers (e.g., rs6971091) in seven genes for follow-up in a sample of about 1,500 males.

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset is small (102.7 KB), indicating limited scope, likely containing summary or variant call data rather than raw sequences.

Provenance

Source

Semyon Kolmykov via figshare.

Collection Method

Whole-exome sequencing performed on 157 samples, with variant calling and filtering according to GATK Best Practices. Association analysis used the χ2 test.

Freshness

Last updated 2026-04-09 03:03:39; freshness should be verified.

Geography

Russian Federation, specifically samples from Slavic, Buryat, and Yakut ethnic groups.