ArticleThe Journal of allergy and clinical immunology2021
Efficacy and economics of targeted panel versus whole-exome sequencing in 878 patients with suspected primary immunodeficiency.
Article in The Journal of allergy and clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
51 citing papers in PubMed, 4 syntheses or guidelines pooled it, 71 citations in OpenAlex.
- Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2025Pooled it
- Diagnostic yield of next-generation sequencing in suspect primary immunodeficiencies diseases: a systematic review and meta-analysis.Clinical and experimental medicine · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- Inborn Errors of Immunity Genotype: A Retrospective Study from the United Arab Emirates.Journal of clinical immunology · 2026Article
- Clinical Spectrum and Therapeutic Options in Monogenic CTLA-4-, LRBA-, or SOCS1-Related Primary Immune Regulatory Disorders.The journal of allergy and clinical immunology. In practice · 2026Review
- Article
- Diagnostic yield and clinical impact of genetic testing in inborn errors of immunity: lessons from a large Turkish cohort.European journal of pediatrics · 2026Article
- Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.Scientific reports · 2026Article
- A novel case of autosomal recessive CARD11 loss-of-function underlying impaired antiviral immunity and a review of literature.Clinical & translational immunology · 2026Article
- Identification of novelFrontiers in genetics · 2026Article
- Genetically defined systemic autoinflammatory diseases in pediatric patients with Behçet's disease.Frontiers in immunology · 2026Article
- Clinical spectrum and survival outcomes of malignancies in pediatric patients with inborn errors of immunity.Frontiers in immunology · 2026Article
- CD27 and GZMK as Co-Biomarkers in Rheumatoid Arthritis and Crohn's Disease and Mediate Immune ImbalanceEndocrine, metabolic & immune disorders drug targets · 2026Article
- Diagnostic utility of targeted flow cytometry in genetically confirmed inborn errors of immunity: a 20-year single-center experience.Frontiers in immunology · 2026Article
- Past, present, and future of genomic technologies in cerebellar ataxias.Journal of neurology · 2025Review
- Advocating Targeted Sequential Screening over Whole Exome Sequencing in 21-Hydroxylase Deficiency.Indian journal of pediatrics · 2025Article
- Next-generation sequencing of CCR5, CXCR4, and IFNAR1 variants in relation to HIV-1 disease progression and ART response.Scientific reports · 2025Article
- Targeting Complex Cutaneous Viral Infections in Search of Inborn Errors of Immunity.Acta dermato-venereologica · 2025Article
- IEIVariantFilter: a bioinformatics tool to speed up genetic diagnosis of inborn errors of immunity patients.NAR genomics and bioinformatics · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNext-generation sequencing has become a first-line tool for the diagnosis of primary immunodeficiency. However, patient access remains limited because of restricted insurance coverage and a lack of guidelines addressing the use of targeted panels versus whole-exome sequencing (WES).
objectivesWe sought to compare targeted next-generation sequencing with WES in a global population of patients with primary immunodeficiency.
methodsThis was a longitudinal study of 878 patients with likely primary immunodeficiency sequenced between 2010 and 2020. Most patients (n = 780) were first sequenced using a 264 gene panel. This was followed by WES in selected cases if a candidate gene was not found. A subset of patients (n = 98) were selected for a WES-only pipeline if the history was atypical for genes within the targeted panel.
resultsDisease-causing variants were identified in 498 of the 878 probands (56%), encompassing 152 distinct monogenic disorders. Sixteen patients had disorders that were novel at the time of sequencing (1.8%). Diagnostic yield in patients sequenced by targeted panel was 56% (433 of 780 patients), with subsequent WES leading to an additional 18 diagnoses (overall diagnostic yield 58%, 451 of 780 patients). The WES-only approach had a diagnostic yield of 45% (45 of 98 patients), reflecting that these cases had less common clinical and laboratory phenotypes. Cost analysis, based on current commercial WES and targeted panel prices, demonstrated savings ranging from $300 to $950 with a WES-only approach, depending on diagnostic yield.
conclusionsAdvantages of WES over targeted next-generation sequencing include simplified workflow, reduced overall cost, and the potential for identification of novel diseases.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.