Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach

28 Mar 2025

Abstract excerpt

Inborn errors of immunity (IEI), a diverse group of rare inborn disorders involving over 500 genes, pose diagnostic challenges despite next-generation sequencing advancements. Accurate molecular diagnosis is crucial for personalized treatment. This study aimed to assess the complementary role of genome and transcriptome sequencing in improving diagnostic yield for inborn errors of immunity. A cohort of 37...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood disorders and treatments
Share to Immunodeficiency and Autoimmune Disorders
Share to Parvovirus B19 Infection Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40226629
DOI: 10.3389/fimmu.2025.1510365

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approachPMID 40226629Read ↗

NGS data analysis for molecular diagnosis of Inborn Errors of Immunity.Semantic proximity Read ↗

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

Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review.Semantic proximity Read ↗

Next-generation sequencing for inborn errors of immunity.Semantic proximity Read ↗

[Next generation sequencing : a diagnostic tool for inherited immune defects].Semantic proximity Read ↗

Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.Semantic proximity Read ↗

Updates on new monogenic inborn errors of immunity.Semantic proximity Read ↗

Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.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 ↗

Genomics Driving Diagnosis and Treatment of Inborn Errors of Immunity With Cancer Predisposition.Semantic proximity Read ↗

Congenital and acquired defects of immunity: An ever-evolving story.Semantic proximity Read ↗

Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary ImmunodeficienciesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.