ArticleNPJ genomic medicine2020
Identity by descent analysis identifies founder events and links
Article in NPJ genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Multiple-testing corrections in case-control studies using identity-by-descent segments.American journal of human genetics · 2026Article
- Modeling ALS in a dish: how organoids are transforming research.Frontiers in medicine · 2026Review
- Identity-By-Descent Mapping Using Multi-Individual IBD With Genome-Wide Multiple Testing Adjustment.Genetic epidemiology · 2025Article
- Multiple-testing corrections in case-control studies using identity-by-descent segments.bioRxiv : the preprint server for biology · 2025Article
- Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data.NAR genomics and bioinformatics · 2025Article
- Taking identity-by-descent analysis into the wild: Estimating realized relatedness in free-ranging macaques.bioRxiv : the preprint server for biology · 2024Article
- Evaluating protein cross-linking as a therapeutic strategy to stabilize SOD1 variants in a mouse model of familial ALS.PLoS biology · 2024Article
- FiMAP: A fast identity-by-descent mapping test for biobank-scale cohorts.PLoS genetics · 2023Article
- Predictors for progression in amyotrophic lateral sclerosis associated to SOD1 mutation: insight from two population-based registries.Journal of neurology · 2023Observational
- Mitochondrial Dynamics in Neurodegenerative Diseases: Unraveling the Role of Fusion and Fission Processes.International journal of molecular sciences · 2023Review
- Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.European journal of neurology · 2023Article
- Short tandem repeat expansions in sporadic amyotrophic lateral sclerosis and frontotemporal dementia.Science advances · 2023Article
- Identity-by-descent analysis of CMTX3 links three families through a common founder.Journal of human genetics · 2023Article
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.Nature communications · 2022Observational
- A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure.American journal of human genetics · 2022Article
- Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.The Journal of clinical investigation · 2022Article
- All Roads Lead to Rome: Different Molecular Players Converge to Common Toxic Pathways in Neurodegeneration.Cells · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the loss of upper and lower motor neurons resulting in paralysis and eventual death. Approximately 10% of ALS cases have a family history of disease, while the remainder present as apparently sporadic cases. Heritability studies suggest a significant genetic component to sporadic ALS, and although most sporadic cases have an unknown genetic aetiology, some familial ALS mutations have also been found in sporadic cases. This suggests that some sporadic cases may be unrecognised familial cases with reduced disease penetrance in their ancestors. A powerful strategy to uncover a familial link is identity-by-descent (IBD) analysis, which detects genomic regions that have been inherited from a common ancestor. IBD analysis was performed on 83 Australian familial ALS cases from 25 families and three sporadic ALS cases, each of whom carried one of three
Indexed as
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What OpenQuestion holds
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.