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

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

Clinical genetics - 1 Mar 2018

Rae W, Ward D, Mattocks C, Pengelly R J, Eren E, Patel S V, Faust S N, Hunt D, Williams A P

Abstract excerpt

Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result in impairment of functions of the human immune system. PIDs have a broad phenotype with increased morbidity and mortality, and treatment choices are often complex. With increased accessibility of next-generation sequencing (NGS), the rate of discovery of genetic causes for PID has increased exponentially. Identification of...

Read the complete abstract on PubMed

Topics

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

Share to Computational Biology
Share to Disease Management

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genetic Markers

Share to Genetic Testing

Share to Genomics

Share to High-Throughput Nucleotide Sequencing

Share to Immunologic Deficiency Syndromes

Source

Identifiers

PMID: 29077208
DOI: 10.1111/cge.13163

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.PMID 29077208Read ↗

Utility of next generation sequencing in clinical primary immunodeficiencies.Semantic proximity Read ↗

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

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic LaboratorySemantic proximity Read ↗

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Semantic proximity Read ↗

An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases.Semantic proximity Read ↗

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future PerspectivesSemantic proximity Read ↗

Contribution of high‐throughput DNA sequencing to the study of primary immunodeficienciesSemantic proximity Read ↗

A 2020 update on the use of genetic testing for patients with primary immunodeficiency.Semantic proximity Read ↗

Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingSemantic proximity Read ↗

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.Semantic proximity Read ↗

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Semantic proximity Read ↗

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.Semantic proximity Read ↗

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