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

Semyon Kolmykov's dataset contains whole-exome sequencing data from 157 male samples for a genetic association study of semen quality. The data includes samples from three ethnic groups—Slavs (59), Buryats (49), and Yakuts (49)—categorized into pathozoospermia (95) and normospermia (62) groups. It was last updated on 2026-04-09 and identifies nine potential SNP markers in seven testis-expressed genes.

Use Cases

• Identify genetic variants associated with impaired semen quality based on whole-exome sequencing data.
• Compare genetic associations with fertility across different ethnic groups (Slavs, Buryats, Yakuts).
• Prioritize candidate genes (e.g., FAM71F1, FSIP2) for functional studies in spermatogenesis.
• Validate potential SNP markers (e.g., rs6971091, rs557806) in larger population cohorts.

Strengths

• Includes 157 whole-exome sequenced samples with defined ethnic and semen quality groupings.
• Identifies nine specific SNP markers (e.g., rs6971091) in seven genes for subsequent verification.
• Followed GATK Best Practices for variant calling and filtering, and used Ensembl Variant Effect Predictor for annotation.

Limitations

• Row count and column-level documentation are unknown; field semantics must be inferred after download.
• The dataset is small at 3.7 MB, which may limit the scope of direct analysis.

Provenance

Source

Semyon Kolmykov via figshare.

Collection Method

Whole-exome sequencing performed on 157 samples, with variants called and filtered per GATK Best Practices. Association analysis used the χ2 test.

Freshness

Last updated 2026-04-09 03:03:42; freshness should be verified.

Geography

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