In one paragraphArticle in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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0citing papers in PubMed
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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.
2 · The registryThe 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 literatureWho cites it
0 citing papers in PubMed.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
34 authors.
Nicole KuznetsovCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0005-9847-0282 Kensuke DaidaCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-9177-9587 Mary B MakariousCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-7978-1051 Kajsa Atterling BrolinTranslational Neurogenetics Unit, Department of Experimental Medical Science, Lund University, Lund, Sweden.ORCID 0000-0003-4832-922X Laksh MalikCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-2498-146X Cedric KouamCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4949-9052 Breeana BakerCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0006-0193-6558 Raquel RealDepartment of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-8117-742X Kathryn StepDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-4054-7030 Lara M LangeLaboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD 20892, USA.ORCID 0000-0002-7162-9821 Lesley WuDepartment of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0001-5464-5603 Katherine M AndershCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-7709-4111 Pin-Jui KungGenome and Systems Biology Degree Program, National Taiwan University and Academia Sinica, Taipei, Taiwan; Division of Plastic Surgery, Department of Surgery, National Taiwan University Hospital, Taiwan.ORCID 0000-0001-8369-0227 Behloul Soundous MalekNeurology Department, Dr Benbadis University Hospital, Constantine, Algeria.
Maria Teresa PeriñanCentre for Preventive Neurology, Wolfson Institute of Population Health, Queen Mary University of London, London, UK.ORCID 0000-0001-7412-7440 Samantha HongCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0009-0001-8968-6461 Mathew J KoretskyCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-4341-3991 Lana SargeantCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Kristin LevineCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-5702-0980 Cornelis BlauwendraatCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-9358-8111 Kimberley J BillingsleyCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-8003-4029 Sara Bandres-CigaCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-0056-1361 Hampton L LeonardCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0003-2390-8110 Soraya BardienDivision of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-3508-3438 Huw R MorrisDepartment of Clinical and Movement Neurosciences, Queen Square Institute of Neurology, University College London, London, UK.ORCID 0000-0002-5473-3774 Andrew B SingletonCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0001-5606-700X Mike A NallsCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Dan VitaleCenter for Alzheimer's and Related Dementias (CARD), National Institute on Aging and National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.ORCID 0000-0002-0637-3671 Global Parkinson’s Genetics Program (GP2)
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itselfAbstract
Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding the association between CNVs and disease susceptibility is significant in disease genetics research and often requires analysis of large sample sizes. One of the most cost-effective and scalable methods for detecting CNVs is based on normalized signal intensity values, such as Log R Ratio (LRR) and B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present CNV-Finder, a novel pipeline integrating deep learning techniques on array data, specifically a Long Short-Term Memory (LSTM) network, to expedite the large-scale identification of CNVs within predefined genomic regions. This facilitates efficient prioritization of samples for time-consuming or costly subsequent analyses such as Multiplex Ligation-dependent Probe Amplification (MLPA), short-read, and long-read whole genome sequencing. We incorporate four genes to establish our methods-Parkin (
Indexed as
Copy Number Variation (CNV)deep learninggeneticslong short-term memory (LSTM)pipelinePythonStructural Variant (SV)
Identifiers
PMID39605431
PMCPMC11601614
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