Whole-Exome Sequencing Analysis of Human 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). The dataset compares individuals with normospermia (62) and pathozoospermia (95) to identify genetic variants associated with semen quality parameters. It includes nine prioritized SNP markers in seven testis-expressed genes for further verification.

Use Cases

• Identifying genetic markers associated with impaired semen quality based on whole-exome sequencing data.
• Comparing allele frequencies of candidate SNPs across different ethnic populations (Slavs, Buryats, Yakuts).
• Prioritizing variants for functional studies based on testis-specific gene expression and variant effect prediction.
• Validating discovered SNP markers in larger, independent population samples.

Strengths

• Includes 157 whole-exome sequenced samples with defined semen quality and ethnic group classifications.
• Analysis identified nine specific SNP markers (e.g., rs6971091) in seven genes for subsequent verification.
• Samples were pre-screened to be negative for complete AZF microdeletions on the Y-chromosome.
• Variant calling and filtering followed GATK Best Practices recommendations.

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset is small (757.0 KB), representing a limited discovery cohort for initial genetic screening.
• 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 subsequent variant calling, association testing (χ2), and variant prioritization using Ensembl Variant Effect Predictor.

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.