Evidence map›Paper›PMID 39341812›Full record

ArticleNPJ genomic medicine2024

Polygenic scores stratify neurodevelopmental copy number variant carrier cognitive outcomes in the UK Biobank.

Thomas J Dinneen, Fiana Ní Ghrálaigh, Cathal Ormond, Elizabeth A Heron, George Kirov, Lorna M Lopez, Louise Gallagher

Abstract read
In one paragraph

Article in NPJ genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. Review
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

7 authors.

Thomas J DinneenTrinity College Dublin, Department of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, St. James' Hospital, Dublin 8, Ireland. tom.dinneen@sickkids.ca.ORCID http://orcid.org/0000-0003-3767-6859
Fiana Ní GhrálaighDepartment of Biology, Maynooth University, Maynooth, Co, Kildare, Ireland.
Cathal OrmondTrinity College Dublin, Department of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, St. James' Hospital, Dublin 8, Ireland.
Elizabeth A HeronTrinity College Dublin, Department of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, St. James' Hospital, Dublin 8, Ireland.
George KirovMRC Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.
Lorna M LopezDepartment of Biology, Maynooth University, Maynooth, Co, Kildare, Ireland.ORCID http://orcid.org/0000-0002-0241-9783
Louise GallagherTrinity College Dublin, Department of Psychiatry, School of Medicine, Trinity Centre for Health Sciences, St. James' Hospital, Dublin 8, Ireland.

Funding

Innovative Medicines Initiative (IMI) 777394
6 · The paper itself

Abstract

Rare copy-number variants associated with neurodevelopmental conditions (ND-CNVs) exhibit variable expressivity of clinical, physical, behavioural outcomes. Findings from clinically ascertained cohorts suggest this variability may be partly due to additional genetic variation. Here, we assessed the impact of polygenic scores (PGS) and rare variants on ND-CNV carrier fluid intelligence (FI) scores in the UK Biobank. Greater PGS for cognition (PS

Identifiers

PMID39341812
PMCPMC11438881

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Registered trials

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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.