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Public Health Genomics and Precision Health Knowledge Base (v8.2)
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Last data update: Jan 31, 2023
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Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394
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GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.
Chopra Maya et al. Molecular therapy. Methods & clinical development 2022 2732-46
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dbRUSP: An Interactive Database to Investigate Inborn Metabolic Differences for Improved Genetic Disease Screening.
Peng Gang et al. International journal of neonatal screening 2022 8(3)
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AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth Johann et al. Human mutation 2022
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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier M A et al. Journal of biomedical informatics 2022 104174
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CHDbase: A comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations.
Zhou Wei-Zhen et al. Genomics, proteomics & bioinformatics 2022
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Use of Online Newborn Screening Educational Resources for the Education of Expectant Parents: An Improvement in Equity.
Thompson Kristen et al. International journal of neonatal screening 2022 8(2)
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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Burlina Alberto et al. International journal of neonatal screening 2022 8(2)
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A machine learning-based screening tool for genetic syndromes in children.
Mensah Martin Atta et al. The Lancet. Digital health 2022 4(5) e295
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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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A preliminary application of a haemophilia value framework to emerging therapies in haemophilia.
Skinner Mark W et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 28 Suppl 29-18
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seqr: a web-based analysis and collaboration tool for rare disease genomics.
Pais Lynn S et al. Human mutation 2022
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Gene-Disease Relationship Evidence: A clinical perspective focusing on ultra-rare diseases.
Santen Gijs W E et al. Human mutation 2022
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Variomes: a high recall search engine to support the curation of genomic variants.
Pasche Emilie et al. Bioinformatics (Oxford, England) 2022
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PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi Chiara et al. Human mutation 2022
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The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie Steven et al. Human mutation 2022
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Genomics4RD: An integrated platform to share Canadian deep-phenotype and multi-omic data for international rare disease gene discovery.
Driver Hannah G et al. Human mutation 2022
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PhenomeCentral: 7 years of rare disease matchmaking.
Osmond Matthew et al. Human mutation 2022
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GRNDaD: big data and sickle cell disease.
Lanzkron Sophie et al. Blood advances 2022 6(3) 1088
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PirePred: An Accurate Online Consensus Tool to Interpret Newborn Screening Related Genetic Variants in Structural Context.
Galano-Frutos Juan José et al. The Journal of molecular diagnostics : JMD 2022
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A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom?
Vears Danya et al. Prenatal diagnosis 2022
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Towards a Newborn Screening Common Data Model: The Utah Newborn Screening Data Model.
Jones David et al. International journal of neonatal screening 2021 7(4)
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An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease.
Yang Lan et al. Computational and structural biotechnology journal 2021 195741-5751
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A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.
Yang Jian et al. Interdisciplinary sciences, computational life sciences 2021
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Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.
Bizzari Sami et al. Genes 2021 12(10)
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ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application.
Watkins Michael et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2021 2021615-623
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VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss.
Peng Jiguang et al. Human mutation 2021
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A More Universal Approach to Comprehensive Analysis of ThalaSsemia Alleles (CATSA).
Liang Qiaowei et al. The Journal of molecular diagnostics : JMD 2021
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The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
Brower Amy et al. International journal of neonatal screening 2021 7(3)
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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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Page last reviewed:
Jul 25, 2022
Page last updated:
Jan 31, 2023
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