Table 1_Overview of next-generation sequencing to the molecular diagnosis of inborn errors

A systematic review summarizing Brazilian studies employing next-generation sequencing (NGS) for diagnosing inborn errors of immunity (IEI). The review analyzed 10 studies published up to April 2025, comprising data from 419 patients, of whom 82 were diagnosed with IEI. It was authored by Filipe Vicente dos Santos-Bueno and last updated in May 2026.

Use Cases

• Benchmarking diagnostic methodologies based on reported NGS workflows and bioinformatics pipelines.
• Analyzing regional disparities in genetic research based on the concentration of studies in Southeast, Northeast, and South Brazil.
• Studying variant prioritization and interpretation practices based on the reported use of ACMG/AMP guidelines.

Strengths

• The review follows PRISMA guidelines and is registered with PROSPERO (CRD420251059458).
• It synthesizes data from 10 studies covering 419 patients, providing a quantitative overview of the field.
• It identifies specific gaps, such as a lack of studies in the North and Middle-West regions of Brazil.

Limitations

• The dataset is a 704.0 KB DOCX document; the underlying data tables are not provided as structured data.
• Column-level documentation is absent; field semantics must be inferred from the review text.
• The review notes considerable variability and incomplete reporting of methodological details among the included studies.

Provenance

Source

figshare

Collection Method

Systematic literature review conducted according to PRISMA guidelines, searching Embase, MEDLINE, SciELO, and LILACS databases.

Time Range

Studies published up to April 2025.

Freshness

Last updated 2026-05-15 05:39:49

Geography

Brazil, specifically studies conducted in the Southeast, Northeast, and South regions.