ArticleHGG advances2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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
12 citing papers in PubMed, 19 citations in OpenAlex.
- Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.The Lancet regional health. Europe · 2026Article
- Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness.JAMA network open · 2026Observational
- Fathers' and Mothers' support needs and support experiences after rapid genome sequencing.European journal of human genetics : EJHG · 2026Article
- Extending the Branches of Neonatal Neurocritical Care.Seminars in perinatology · 2025Review
- A Novel Loss of Function Variant inMolecular syndromology · 2025Article
- STRchive: a dynamic resource detailing population-level and locus-specific insights at tandem repeat disease loci.Genome medicine · 2025Article
- Genetic investigations in cerebral palsy.Developmental medicine and child neurology · 2025Review
- Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Neurology · 2025Article
- Epilepsy-associatedFrontiers in neurology · 2025Article
- Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.Frontiers in genetics · 2024Article
- Resources and tools for rare disease variant interpretation.Frontiers in molecular biosciences · 2023Review
- A missense variant in DGKG as a recessive functional variant for hepatic fibrinogen storage disease in Wagyu cattle.Journal of veterinary internal medicineArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To facilitate early deployment of whole-genome sequencing (WGS) for severely ill children, a standardized pipeline for WGS analysis with timely turnaround and primary care pediatric uptake is needed. We developed a bioinformatics pipeline for comprehensive gene-agnostic trio WGS analysis of children suspected of having an undiagnosed monogenic disease that included detection and interpretation of primary genetic mechanisms of disease, including SNVs/indels, CNVs/SVs, uniparental disomy (UPD), imprinted genes, short tandem repeat expansions, mobile element insertions,
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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.