Pediatric Whole-Exome Sequencing Diagnostic Yields and Clinical Utility in Xinjiang

572 pediatric patients suspected of Mendelian disorders were analyzed via whole-exome sequencing from January 2016 to June 2020. The overall positive diagnostic yield was 42.3%, with higher yields observed in Uyghur children and patients from consanguineous families. This dataset, shared on figshare under a CC-BY-4.0 license, includes results that altered medication and clinical management for a majority of patients with positive findings.

Use Cases

• Compare diagnostic yields of whole-exome sequencing based on patient ethnicity and consanguinity status
• Analyze the distribution of recessive versus de novo genetic variants based on family background
• Investigate the clinical impact of genetic diagnoses based on reported changes to medication and clinical management
• Study novel clinical phenotypes reported in a pediatric cohort

Strengths

• Dataset includes results from 572 pediatric patients, providing a substantial cohort for analysis.
• Description provides specific diagnostic yields (e.g., 42.3% overall, 46.5% for Uyghur children) and clinical impact metrics (e.g., 89.2% had clinical management altered).
• Clear temporal coverage from January 2016 to June 2020.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The dataset is small (59.5 KB), indicating limited scope and likely summary-level data rather than raw sequencing data.

Provenance

Source

Pediatric Center of the First Affiliated Hospital of Xinjiang Medical University.

Collection Method

Retrospective analysis of whole-exome sequencing reports verified by supervising physicians.

Time Range

January 2016 to June 2020.

Freshness

Last updated 2026-05-20 07:55:10; freshness should be verified.

Geography

Xinjiang, China.