ArticleEuropean journal of human genetics : EJHG2022
Recommendations for whole genome sequencing in diagnostics for rare diseases.
Article in European journal of human genetics : EJHG, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
75 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.Clinical genetics · 2026Pooled it
- Position Statement of the Indian Academy of Medical Genetics on Next Generation Sequencing-Based Testing for Rare Genetic Disorders.Indian journal of pediatrics · 2026Guideline
- Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.Genome medicine · 2025Trial
- Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.European journal of human genetics : EJHG · 2026Article
- Expanding the Genomic Spectrum ofInternational journal of molecular sciences · 2026Article
- Resolving a Complex Neonatal Phenotype by Rapid Trio Whole-Genome Sequencing: A De Novo 11q14.3-q22.3 Deletion and a Splicing-Altering Synonymous ANK1 Variant.Journal of clinical laboratory analysis · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.Journal of medical genetics · 2026Article
- European Reference Networks - a flagship activity of the EU in the field of rare and complex diseases: from 2017 to 2025.Orphanet journal of rare diseases · 2026Review
- Implementation of an Inherited Diseases Gene Panel to Accelerate Precision Medicine in the South African Public Healthcare System.Molecular genetics & genomic medicine · 2026Article
- The role of genomic assistants, associates, and practitioners (GenPs) in the NHS in England: demographics, future career plans and key challenges.European journal of human genetics : EJHG · 2026Article
- The genomic medicine center Karolinska 10-year report on genome sequencing for rare diseases and a strategy for stepwise clinical implementation.Genome medicine · 2026Article
- Recurrent mandibulofacial dysostosis, Guion-Almeida type in consecutive pregnancies due to maternal mosaicism of a novel EFTUD2 variant: a case report and review of the literature.Journal of medical case reports · 2026Review
- Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study.Frontiers in genetics · 2026Article
- GenRiskPro: A Comprehensive Whole-Genome Sequencing Analysis Platform for Clinical and Wellness Applications.Computational and structural biotechnology journal · 2026Article
- Privacy-hardened and hallucination-resistant synthetic data generation with logic-solvers.Bioinformatics (Oxford, England) · 2025Article
- Accelerate the discovery of genetic variants in mitochondrial diseases with Variant prIOritization using Latent spAce.Briefings in bioinformatics · 2025Article
- Congenital Imprinting Diseases: Aetiology, Pre- and Perinatal Manifestations, Diagnosis and Care of Affected Families and Pregnancies.Geburtshilfe und Frauenheilkunde · 2025Article
- Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.Scientific reports · 2025Article
- Integrating the Continuum of Genetic Testing From Fetus to Neonate: A Review of Prenatal Genetic Testing and the Overlap With Newborn Testing.Prenatal diagnosis · 2025Review
15 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors.
Funding
Abstract
In 2016, guidelines for diagnostic Next Generation Sequencing (NGS) have been published by EuroGentest in order to assist laboratories in the implementation and accreditation of NGS in a diagnostic setting. These guidelines mainly focused on Whole Exome Sequencing (WES) and targeted (gene panels) sequencing detecting small germline variants (Single Nucleotide Variants (SNVs) and insertions/deletions (indels)). Since then, Whole Genome Sequencing (WGS) has been increasingly introduced in the diagnosis of rare diseases as WGS allows the simultaneous detection of SNVs, Structural Variants (SVs) and other types of variants such as repeat expansions. The use of WGS in diagnostics warrants the re-evaluation and update of previously published guidelines. This work was jointly initiated by EuroGentest and the Horizon2020 project Solve-RD. Statements from the 2016 guidelines have been reviewed in the context of WGS and updated where necessary. The aim of these recommendations is primarily to list the points to consider for clinical (laboratory) geneticists, bioinformaticians, and (non-)geneticists, to provide technical advice, aid clinical decision-making and the reporting of the results.
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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.