Article

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis

2024-06-17

Abstract excerpt

While next generation sequencing has expanded the scientific understanding of Inborn Errors of Immunity (IEI), the clinical use of exome sequencing is still emerging. We performed a cohort level meta-analysis by revisiting clinical exome data from 1,300 IEI patients using an updated in-silico gene panel for IEI. Variants were classified and curated through expert review. The molecular diagnostic yield after stand...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3fb820eb-b595-550b-9178-4e741d0f8363
DOI: 10.1101/2024.06.14.24308832

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysisDOI 10.1101/2024.06.14.24308832Read

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysisSemantic proximity Read

Exome and genome sequencing for inborn errors of immunity.Semantic proximity Read

Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectivesSemantic proximity Read

Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.Semantic proximity Read

Genetic evaluation of the patients with clinically diagnosed inborn errors of immunity by whole exome sequencing: Results from a specialized research center for immunodeficiency in TürkiyeSemantic proximity Read

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.Semantic proximity Read

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results.Semantic proximity Read

Genetic diagnosis of inborn errors of immunity using clinical exome sequencingSemantic proximity Read

Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.Semantic proximity Read

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.Semantic proximity Read

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: a retrospective cohort studySemantic proximity Read

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.Semantic proximity Read