ArticleEuropean journal of human genetics : EJHG2018
Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 3 of them syntheses that pooled it.
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Who cites it
116 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Mutations in the tail and rod domains of the neurofilament heavy-chain gene increase the risk of ALS.Annals of clinical and translational neurology · 2024Pooled it
- Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.Genome biology · 2021Pooled it
- C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.Acta neuropathologica communications · 2019Pooled it
- Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at themedRxiv : the preprint server for health sciences · 2026Article
- Strategic Amyotrophic Lateral Sclerosis Australia-Systems Genomics Consortium (SALSA-SGC): cohort profile.BMJ open · 2026Article
- High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis.Annals of neurology · 2026Article
- Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosis.Nature genetics · 2026Article
- Paraspeckle condensation is controlled via TDP-43 polymerization and linked to neuroprotection.Nature cell biology · 2026Article
- Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.BMJ neurology open · 2026Article
- Impaired dynein function preserves spinal interneuron survival and positioning in an ALS-like mouse model.PloS one · 2026Article
- Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.NPJ genomic medicine · 2025Article
- Dissecting epigenetic age acceleration in amyotrophic lateral sclerosis.Epigenomics · 2025Article
- Two-step Mendelian randomization reveals a lipid-driven protective effect of type 2 diabetes on ALS.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- Pathology of three ALS patients with FUS variants, including one likely benign Q23L variant lacking FUS inclusions.Human molecular genetics · 2025Article
- Genotype imputation from low-coverage data for medical and population genetic analyses.Genome research · 2025Article
- An observational study of pleiotropy and penetrance of amyotrophic lateral sclerosis associated with CAG-repeat expansion of ATXN2.European journal of human genetics : EJHG · 2025Observational
- Antisense oligonucleotide depletion ofmedRxiv : the preprint server for health sciences · 2025Article
- A survey on deep learning for polygenic risk scores.Briefings in bioinformatics · 2025Review
- Generating synthetic genotypes using diffusion models.Bioinformatics (Oxford, England) · 2025Article
56 more citing papers are in PubMed but not listed here.
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Authors and funding
1 author.
Funding
Abstract
The most recent genome-wide association study in amyotrophic lateral sclerosis (ALS) demonstrates a disproportionate contribution from low-frequency variants to genetic susceptibility to disease. We have therefore begun Project MinE, an international collaboration that seeks to analyze whole-genome sequence data of at least 15 000 ALS patients and 7500 controls. Here, we report on the design of Project MinE and pilot analyses of successfully sequenced 1169 ALS patients and 608 controls drawn from the Netherlands. As has become characteristic of sequencing studies, we find an abundance of rare genetic variation (minor allele frequency < 0.1%), the vast majority of which is absent in public datasets. Principal component analysis reveals local geographical clustering of these variants within The Netherlands. We use the whole-genome sequence data to explore the implications of poor geographical matching of cases and controls in a sequence-based disease study and to investigate how ancestry-matched, externally sequenced controls can induce false positive associations. Also, we have publicly released genome-wide minor allele counts in cases and controls, as well as results from genic burden tests.
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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.