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Public Health Genomics and Precision Health Knowledge Base (v8.2)
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Last data update: Feb 02, 2023
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Calculating variant penetrance from family history of disease and average family size in population-scale data.
Spargo Thomas P et al. Genome medicine 2022 14(1) 141
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The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.
Page Madeline L et al. Communications biology 2022 5(1) 899
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Attention Deficit Hyperactivity Disorder Classification Based on Deep Learning.
Wang Donglin et al. IEEE/ACM transactions on computational biology and bioinformatics 2022 PP
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[Artificial intelligence-based literature data warehouse for vaccine safety].
Yang Y et al. Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi 2022 43(3) 431-435
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GWAS of longitudinal trajectories at biobank scale.
Ko Seyoon et al. American journal of human genetics 2022
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AlzCode: a Platform for Multiview Analysis of Genes Related to Alzheimer's Disease.
Lin Cui-Xiang et al. Bioinformatics (Oxford, England) 2022
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Insurance payment for artificial intelligence technology: Methods used by a stroke artificial intelligence system and strategies to qualify for the new technology add-on payment.
Murray Nick M et al. The neuroradiology journal 2022 19714009211067408
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A Deep Neural Network-Based Model for Screening Autism Spectrum Disorder Using the Quantitative Checklist for Autism in Toddlers (QCHAT).
Mujeeb Rahman K K et al. Journal of autism and developmental disorders 2021
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PDKit: A data science toolkit for the digital assessment of Parkinson's Disease.
Stamate Cosmin et al. PLoS computational biology 2021 17(3) e1008833
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The early warning research on nursing care of stroke patients with intelligent wearable devices under COVID-19.
Li Fengxia et al. Personal and ubiquitous computing 2021 Jan 1-13
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Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun
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Duchenne Muscular Dystrophy Education Series
American Academy of Pediatrics
New CRISPR tool has the potential to correct almost all disease-causing DNA glitches, scientists report
S Begley. Stat News, October 21, 2019
Heart Disease and Stroke Map Widget
CDC, 2019
A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial.
Crow Rebecca A et al. Trials 2018 May 19(1) 291
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The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis.
Marín de Evsikova Caralina et al. Journal of personalized medicine 2019 Apr 9(2)
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Autism Data Visualization Tool
Explore the information to see autism spectrum disorder (ASD) prevalence estimates and demographic characteristics at the national, state, and community levels.
AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder.
Yang Changhong et al. Database : the journal of biological databases and curation 2018 2018
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DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.
Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov
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Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists.
Boffi Lucia et al. Italian journal of pediatrics 2018 Nov 44(Suppl 2) 122
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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig Ingo et al. Human mutation 2018 Nov 39(11) 1476-1484
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The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.
Burton Barbara K et al. Pediatrics 2017 Jul 140(Suppl 1) S14-S23
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An online tool to help you decide whether or not to get tested to learn your genetic risk for late-onset Alzheimer's disease.
DMDtoolkit: a tool for visualizing the mutated dystrophin protein and predicting the clinical severity in DMD.
Zhou Jiapeng et al. BMC bioinformatics 2017 Feb 18(1) 87
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Proposal for a Prospective Registry for Moyamoya Disease in Japan.
Kazumata Ken et al. Neurologia medico-chirurgica 2017 Jan
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Clinical Follow-Up For Duchenne Muscular Dystrophy Newborn Screening: A Proposal.
Kwon Jennifer M et al. Muscle & nerve 2016 May
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DS-Connect: A Promising Tool to Improve Lives and Engage Down Syndrome Communities Worldwide.
Peprah Emmanuel K et al. Glob Heart 2015 Aug 11.
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Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines.
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Development of a Smartphone App for a Genetics Website: The Amyotrophic Lateral Sclerosis Online Genetics Database (ALSoD).
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The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia.
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Page last reviewed:
Feb 1, 2023
Page last updated:
Feb 02, 2023
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