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

A 2026 study by Semyon Kolmykov presents whole-exome sequencing data from 157 male samples across three Russian ethnic groups—Slavs (59), Buryats (49), and Yakuts (49)—categorized by semen quality (95 pathozoospermia, 62 normospermia). The analysis identified nine potential SNP markers in seven testis-expressed genes associated with impaired semen quality. The dataset is 3.6 MB in size and shared under a CC-BY-4.0 license.

Use Cases

• Identify genetic variants associated with male infertility based on whole-exome sequencing data.
• Compare genetic associations with semen quality across different ethnic groups (Slavs, Buryats, Yakuts).
• Prioritize candidate genes for functional studies based on testis expression and variant effect prediction.
• Validate the nine identified SNP markers (e.g., rs6971091) in independent population cohorts.

Strengths

• Includes 157 whole-exome sequenced samples with defined ethnic and semen quality groupings.
• Analysis followed GATK Best Practices for variant calling and filtering, and used the Ensembl Variant Effect Predictor.
• Identified nine specific SNP markers (e.g., rs6971091) in seven genes for subsequent verification in a larger sample (~1,500 males).

Limitations

• Row count and column-level documentation are unknown; field semantics must be inferred after download.
• The dataset is small (3.6 MB), which may limit the scope of direct analysis without the larger verification cohort.

Provenance

Source

Semyon Kolmykov, shared via figshare.

Collection Method

Whole-exome sequencing performed on 157 samples, with subsequent variant calling, filtering, and association analysis using the χ2 test.

Freshness

Last updated 2026-04-09 03:03:42.

Geography

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