Evidence map›Paper›PMID 38336875›Full record

ArticleNature communications2024

A method to estimate the contribution of rare coding variants to complex trait heritability.

Nazia Pathan, Wei Q Deng, Matteo Di Scipio, Mohammad Khan, Shihong Mao, Robert W Morton, Ricky Lali, Marie Pigeyre, Michael R Chong, Guillaume Paré

Abstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing 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

16 citing papers in PubMed.

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  8. Hereditary spastic paraplegia: from decades of therapy to future innovations.Therapeutic advances in neurological disorders · 2026
    Review
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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

10 authors.

Nazia PathanPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.ORCID 0000-0002-2414-8312
Wei Q DengPeter Boris Centre for Addictions Research, St. Joseph's Healthcare Hamilton, Hamilton, Canada.ORCID 0000-0003-4212-2607
Matteo Di ScipioPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.
Mohammad KhanPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.ORCID 0000-0001-5076-279X
Shihong MaoPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.
Robert W MortonPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.ORCID 0000-0003-0099-4167
Ricky LaliPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.
Marie PigeyrePopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.ORCID 0000-0003-2984-8366
Michael R ChongPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada.
Guillaume ParéPopulation Health Research Institute, David Braley Cardiac, Vascular and Stroke Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, Canada. pareg@mcmaster.ca.ORCID 0000-0002-6795-4760

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

It has been postulated that rare coding variants (RVs; MAF < 0.01) contribute to the "missing" heritability of complex traits. We developed a framework, the Rare variant heritability (RARity) estimator, to assess RV heritability (h

Indexed as

Multifactorial InheritancePolymorphism, Single NucleotideGenome-Wide Association StudyModels, GeneticMolecular Sequence AnnotationPhenotype

Identifiers

PMID38336875
PMCPMC10858280

What OpenQuestion 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 OpenQuestion graph.