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Genome-wide genotyping platforms have the capacity to capture genetic variation across different populations, but there have been disparities in the representation of population-dependent genetic diversity. The motivation for pursuing this endeavor was to create a comprehensive genome-wide array capable of encompassing a wide range of neuro-specific content for the Global Parkinson's Genetics Program (GP2) and the Center for Alzheimer's and Related Dementias (CARD). CARD aims to increase diversity in genetic studies, using this array as a tool to foster inclusivity. GP2 is the first supported resource project of the Aligning Science Across Parkinson's (ASAP) initiative that aims to support a collaborative global effort aimed at significantly accelerating the discovery of genetic factors contributing to Parkinson's disease and atypical parkinsonism by generating genome-wide data for over 200,000 individuals in a multi-ancestry context. Here, we present the Illumina NeuroBooster array (NBA), a novel, high-throughput and cost-effective custom-designed content platform to screen for genetic variation in neurological disorders across diverse populations. The NBA contains a backbone of 1,914,934 variants (Infinium Global Diversity Array) complemented with custom content of 95,273 variants implicated in over 70 neurological conditions or traits with potential neurological complications. Furthermore, the platform includes over 10,000 tagging variants to facilitate imputation and analyses of neurodegenerative disease-related GWAS loci across diverse populations. The NBA can identify low frequency variants and accurately impute over 15 million common variants from the latest release of the TOPMed Imputation Server as of August 2023 (reference of over 300 million variants and 90,000 participants). We envisage this valuable tool will standardize genetic studies in neurological disorders across different ancestral groups, allowing researchers to perform genetic research inclusively and at a global scale.
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http://dx.doi.org/10.1101/2023.11.06.23298176 | DOI Listing |
Protein Cell
August 2025
Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Fudan University, Shanghai 200433, China.
Cardiovascular disease (CVD) research is hindered by limited comprehensive analyses of plasma proteome across disease subtypes. Here, we systematically investigated the associations between plasma proteins and cardiovascular outcomes in 53,026 UK Biobank participants over a 14-year follow-up. Association analyses identified 3,089 significant associations involving 892 unique protein analytes across 13 CVD outcomes.
View Article and Find Full Text PDFAlzheimers Dement
September 2025
Department of Population Health Sciences, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.
Introduction: We compared and measured alignment between the Health Level Seven (HL7) Fast Healthcare Interoperability Resources (FHIR) standard used by electronic health records (EHRs), the Clinical Data Interchange Standards Consortium (CDISC) standards used by industry, and the Uniform Data Set (UDS) used by the Alzheimer's Disease Research Centers (ADRCs).
Methods: The ADRC UDS, consisting of 5959 data elements across eleven packets, was mapped to FHIR and CDISC standards by two independent mappers, with discrepancies adjudicated by experts.
Results: Forty-five percent of the 5959 UDS data elements mapped to the FHIR standard, indicating possible electronic obtainment from EHRs.
Alzheimers Dement
September 2025
Department of Neurology, Beijing TianTan Hospital, Capital Medical University, Beijing, China.
Cognitive impairment and dementia, including Alzheimer's disease (AD), pose a global health crisis, necessitating non-invasive biomarkers for early detection. This review highlights the retina, an accessible extension of the central nervous system (CNS), as a window to cerebral pathology through structural, functional, and molecular alterations. By synthesizing interdisciplinary evidence, we identify retinal biomarkers as promising tools for early diagnosis and risk stratification.
View Article and Find Full Text PDFCurr Med Imaging
September 2025
Department of Pharmacy, The Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, 325035, China.
Unlabelled: Leptomeningeal metastasis (LM) is a severe complication of solid malignancies, including lung adenocarcinoma, characterized by poor prognosis and diagnostic challenges. This study assesses whether curvilinear peri-brainstem hyperintense signals on MRI are a characteristic feature of LM in lung adenocarcinoma patients.
Methods: This retrospective study analyzed data from multiple centers, encompassing lung adenocarcinoma patients with peri-brainstem curvilinear hyperintense signals on MRI between January 2016 and March 2022.
J Appl Res Intellect Disabil
September 2025
Department of Pedagogy, Faculty of Education and Social Work, University of Valladolid, Valladolid, Spain.
Background: Mental health (MH) problems are more common in people with intellectual disabilities (ID), yet under-diagnosis persists, which may be partly due to a lack of appropriate assessment tools. This study presents a systematic review of instruments used to assess MH problems in Spanish-speaking adults with ID.
Method: Following PRISMA guidelines, a search was conducted in Web of Science, PsycINFO, and Scopus using terms related to ID, MH and assessment.