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

Exome and genome sequencing for inborn errors of immunity.

The Journal of allergy and clinical immunology - 1 Oct 2016

Meyts Isabelle, Bosch Barbara, Bolze Alexandre, Boisson Bertrand, Itan Yuval, Belkadi Aziz, Pedergnana Vincent, Moens Leen, Picard Capucine, Cobat Aurélie, Bossuyt Xavier, Abel Laurent, Casanova Jean-Laurent

Abstract excerpt

The advent of next-generation sequencing (NGS) in 2010 has transformed medicine, particularly the growing field of inborn errors of immunity. NGS has facilitated the discovery of novel disease-causing genes and the genetic diagnosis of patients with monogenic inborn errors of immunity. Whole-exome sequencing (WES) is presently the most cost-effective approach for research and diagnostics, although whole-genome...

Read the complete abstract on PubMed

Topics

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

Share to Exome
Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to High-Throughput Nucleotide Sequencing

Share to Immunologic Deficiency Syndromes

Source

Open in PubMed Open full text

Identifiers

PMID: 27720020
DOI: 10.1016/j.jaci.2016.08.003
PMCID: PMC5074686

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome and genome sequencing for inborn errors of immunity.PMID 27720020Read ↗

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

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

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

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

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

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

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

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

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

Deciphering the clinical and genetic spectrum of early-onset inborn errors of immunity in a Brazilian pediatric cohort.Semantic proximity Read ↗

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

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