Data Sheet 1_Case Report: A case series of using whole exome sequencing to detect novel va

A case series document describes the use of whole exome sequencing to identify pathogenic variants in six Vietnamese patients with inborn errors of immunity. The study identified six causative variants, including one novel variant in the STAT3 gene. The document was authored by Nguyen Thi Kim Lien and uploaded to figshare in May 2026.

Use Cases

• Identify novel pathogenic variants based on whole exome sequencing data described in the study
• Assess pathogenicity of genetic variants based on ACMG criteria and in silico software mentioned
• Link heterogeneous clinical phenotypes to specific genetic damage as discussed in the background
• Improve diagnostic accuracy for rare immune disorders using the genetic screening approach outlined

Strengths

• Identifies six causative variants, including one novel variant (c.1110–3C>A in STAT3)
• Applies specific screening criteria (MAF < 0.001) and ACMG guidelines for pathogenicity assessment
• Focuses on a specific patient cohort (six Vietnamese patients) with rare immune disorders

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• The dataset is a single document (739.1 KB) with a limited scope of six patients

Provenance

Source

figshare

Collection Method

Whole exome sequencing was used on six Vietnamese patients, with variants screened using specific criteria.

Freshness

Last updated 2026-05-27 22:01:48; freshness should be verified

Geography

Vietnam