Evidence map›Paper›PMID 40191585›Full record

ArticleNAR genomics and bioinformatics2025

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.

Erandee Robertson, Bronwyn E Grinton, Karen L Oliver, Liam G Fearnley, Michael S Hildebrand, Lynette G Sadleir, Ingrid E Scheffer, Samuel F Berkovic, Mark F Bennett, Melanie Bahlo

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NAR genomics and bioinformatics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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.

Erandee RobertsonPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Bronwyn E GrintonPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Karen L OliverPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Liam G FearnleyPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Michael S HildebrandEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria 3084, Australia.
Lynette G SadleirDepartment of Paediatrics and Child Health, University of Otago, Wellington South 6242, New Zealand.
Ingrid E SchefferEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria 3084, Australia.
Samuel F BerkovicEpilepsy Research Centre, Department of Medicine, Austin Health, University of Melbourne, Heidelberg, Victoria 3084, Australia.ORCID 0000-0003-4580-841X
Mark F BennettPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.
Melanie BahloPopulation Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.ORCID 0000-0001-5132-0774

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We describe FoundHaplo, an identity-by-descent algorithm that can be used to screen untyped disease-causing variants using single nucleotide polymorphism (SNP) array data. FoundHaplo leverages knowledge of shared disease haplotypes for inherited variants to identify those who share the disease haplotype and are, therefore, likely to carry the rare [minor allele frequency (MAF) ≤ 0.01%] variant. We performed a simulation study to evaluate the performance of FoundHaplo across 33 disease-harbouring loci. FoundHaplo was used to infer the presence of two rare (MAF ≤ 0.01%) pathogenic variants,

Indexed as

HaplotypesPolymorphism, Single NucleotideRare DiseasesAlgorithmsGene FrequencyHumans

Identifiers

PMID40191585
PMCPMC11970371

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.