Evidence map›Paper›PMID 42571358›Full record

ArticleThe Lancet regional health. Europe2026

Whole genome sequencing in cerebral palsy: a UK paediatric pilot study.

Thiloka E Ratnaike, Heather H Pierce, Alison J Coffey, Joao M L Dias, Iain R L Kean, Emily Li, Ravi P More, Dulika S Sumathipala, Maya Bajracharya, Zoya Kingsbury and 20 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Lancet regional health. Europe, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

30 authors.

Thiloka E RatnaikeDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Heather H PierceDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Alison J CoffeyIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Joao M L DiasDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Iain R L KeanDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Emily LiDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Ravi P MoreDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Dulika S SumathipalaDepartment of Paediatrics, University of Cambridge, Cambridge, UK.
Maya BajracharyaIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Zoya KingsburyIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Taksina NewingtonIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Anthony S RogersIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Isabelle DelonEast Genomic Laboratory Hub, Level 6 Addenbrookes Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
Kate DownesEast Genomic Laboratory Hub, Level 6 Addenbrookes Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
Yasmin de AlwisPaediatric Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK.
Anna P BasuPaediatric Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, UK.
Manal IssaDepartment of Paediatrics, Colchester Hospital, Turner Rd, Colchester, UK.
Catherine KearneyRedgrave Children and Young People's Centre Luton, UK.
Amjad H KhanChild Development Centre, Kempston Bedford, UK.
Benjamin P MarlowDepartment of Paediatrics, Colchester Hospital, Turner Rd, Colchester, UK.
Alison SansomeChild Development Centre, Addenbrookes Hospital, Cambridge, UK.
JooWook AhnEast Genomic Laboratory Hub, Level 6 Addenbrookes Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
A Yee ThanRedgrave Children and Young People's Centre Luton, UK.
Tracy LauDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.
David R BentleyIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
Sarah BowdinEast Genomic Laboratory Hub, Level 6 Addenbrookes Treatment Centre, Addenbrooke's Hospital, Cambridge, UK.
Evan ReidCambridge Institute for Medical Research and Department of Genomic Medicine, The Keith Peters Building, Cambridge Biomedical Campus, Hills Road, Cambridge, UK.
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.
Sean HumphrayIllumina Inc., Illumina Centre, 19 Granta Park, Great Abington, Cambridge, UK.
David H RowitchDepartment of Paediatrics, University of Cambridge, Cambridge, UK.

Funding

Wellcome Trust
6 · The paper itself

Abstract

Background: Prior international studies indicate that 9-36% of people with cerebral palsy (CP) have a monogenic condition. However, the utility of whole genome sequencing (WGS) as a diagnostic tool for United Kingdom (UK) National Health Service (NHS) patients has not been evaluated. Methods: This prospective pilot study recruited 86 individuals with CP from specialist clinics in Bedford, Cambridge, Colchester, Newcastle, and Luton NHS Foundation Trusts. Gene-agnostic trio WGS was performed using AI-based variant prioritisation, with subsequent application of a CP gene list. Candidate diagnostic pathogenic (P) or likely pathogenic (LP) variants were reviewed at multidisciplinary meetings and confirmed in an NHS Genomic Laboratory Hub prior to issuing a clinical report. The use of human phenotype ontology (HPO) terms was evaluated to estimate probability of a diagnostic variant using a supervised linear discriminant analysis (PCA + LDA) model. Findings: 86/157 (54.7%) individuals approached consented to the study. Variants meeting P/LP diagnostic criteria were identified in 11/86 cases (12.8%). 8/86 participants (9.3%) carried variants strongly suggestive of disease causation. Variants of uncertain significance were identified in 27/86 cases (31.4%). In all cases with P/LP variants, findings informed patient prognosis, specialist care, clinical management, and familial recurrence risk. Machine learning approaches were used to segregate the probability of diagnosis for participants based on HPO terms. Interpretation: WGS is clinically useful for diagnosis and management of genetic conditions associated with CP in the UK. Validation of these findings in a larger cohort is warranted. Funding: Rosetrees Charitable Trust, Isaac Newton Trust, NIHR Cambridge Biomedical Research Centre, and the Wellcome Trust.

Indexed as

Cerebral palsyGenetic testingMonogenic conditionsNational health serviceWhole genome sequencing

Identifiers

PMID42571358
PMCPMC13452173

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.