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

A dataset of 157 whole-exome sequencing samples from a Russian multiethnic population, including Slavs, Buryats, and Yakuts, used to identify genetic markers associated with male semen quality. The study, authored by Semyon Kolmykov and last updated in April 2026, compares individuals with normospermia (n=62) to those with pathozoospermia (n=95). It resulted in the identification of nine potential SNP markers located in seven testis-expressed genes for further verification.

Use Cases

• Identifying genetic variants associated with impaired semen quality based on whole-exome sequencing data.
• Comparing allele frequencies and genetic associations across different ethnic groups (Slavs, Buryats, Yakuts).
• Prioritizing candidate genes for male fertility based on testis expression and variant effect prediction.
• Training or validating models for SNP marker discovery in complex trait analysis.

Strengths

• Includes 157 whole-exome sequenced samples from a multiethnic cohort.
• Defines semen quality groups using specific WHO-recommended reference limits for sperm concentration, motility, and morphology.
• Identifies nine specific SNP markers (e.g., rs6971091) in seven candidate genes for follow-up.

Limitations

• Row count and column-level documentation are unknown, requiring manual inspection after download.
• The dataset is small at 9.0 KB, indicating a limited scope likely focused on summary or variant list data.
• Description metadata is limited; actual data quality and structure require manual inspection after download.

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 03:03:43; freshness should be verified.

Geography

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