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

157 whole-exome sequenced samples from three Russian ethnic groups—Slavs, Buryats, and Yakuts—are analyzed for genetic associations with male fertility. The dataset, created by Semyon Kolmykov, identifies nine potential SNP markers in genes expressed in the testis. It was last updated on April 9, 2026, and is shared under a CC-BY-4.0 license.

Use Cases

• Identify genetic variants associated with pathozoospermia based on whole-exome sequencing data.
• Compare allele frequencies of candidate SNPs across three distinct ethnic groups (Slavs, Buryats, Yakuts).
• Prioritize variants for functional validation based on their location in testis-expressed genes like FAM71F1 and FSIP2.
• Replicate association findings in independent population samples using the nine identified SNP markers.

Strengths

• Includes 157 whole-exome sequenced samples with defined semen quality groups (95 pathozoospermia, 62 normospermia).
• Analyses are stratified by three distinct ethnic groups (59 Slavs, 49 Buryats, 49 Yakuts).
• Variants were filtered and prioritized using established bioinformatics pipelines (GATK Best Practices, Ensembl VEP).

Limitations

• The dataset is small at 9.1 KB; row and column counts are unknown, limiting suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

Semyon Kolmykov via figshare.

Collection Method

Whole-exome sequencing performed on 157 samples, with variant calling following GATK Best Practices and association analysis using χ2 tests.

Freshness

Last updated 2026-04-09 03:03:43; freshness should be verified.

Geography

Samples are from a Russian multiethnic population, specifically Slavs, Buryats, and Yakuts.