Genetic Misdiagnoses and the Potential for Health Disparities - Test2 - elhamkhani - TriplyDB

Genetic Misdiagnoses and the Potential for Health Disparities

Genetic Misdiagnoses and the Potential for Health Disparities

http://www.wikidata.org/entity/Q26316693

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Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations Integrating cancer genomic data into electronic health records Towards Equity in Health: Researchers Take Stock Beyond Our Borders? Public Resistance to Global Genomic Data Sharing Examining How Our Shared Evolutionary History Shapes Future Disease Outcomes.Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project Deregulated Ca2+ cycling underlies the development of arrhythmia and heart disease due to mutant obscurin Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Big Data Science: Opportunities and Challenges to Address Minority Health and Health Disparities in the 21st Century Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.Genomics is failing on diversity.Prospective functional classification of all possible missense variants in PPARG.Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective.Commentary: Perspectives on alcohol-related gene and environment interplay in diverse populations.Distinguishing pathogenic mutations from background genetic noise in cardiology: the use of large genome databases for genetic interpretation.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.The current state of clinical interpretation of sequence variants.Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.The current state of implementation science in genomic medicine: opportunities for improvement.Ethical considerations surrounding germline next-generation sequencing of children with cancer.Obscurin variants and inherited cardiomyopathies.Ethical considerations in genomic testing for hematologic disorders.Genetic identification of a common collagen disease in puerto ricans via identity-by-descent mapping in a health system.A Wide and Specific Spectrum of Genetic Variants and Genotype-Phenotype Correlations Revealed by Next-Generation Sequencing in Patients with Left Ventricular Noncompaction.Recent Advances in Understanding and Managing Cardiomyopathy.Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas Lessons from the CAGI-4 Hopkins clinical panel challenge.Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries.Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.2016 in Review and Message from the Editors to our Reviewers.Diversity and inclusion in genomic research: why the uneven progress?Inclusion of diverse populations in genomic research and health services: Genomix workshop report.Genomics for all in the 21st century?Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance Clinical utility of the low-density Infinium QC genotyping Array in a genomics-based diagnostics laboratory.Genomic medicine and data sharing.Epigenomic Disruption of Cardiovascular Care: What It Will Take.Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.

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Genetic Misdiagnoses and the Potential for Health Disparities

http://www.wikidata.org/entity/Q26316693

description

2016 nî lūn-bûn

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2016 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2016 թվականի օգոստոսին հրատարակված գիտական հոդված

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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Genetic Misdiagnoses and the Potential for Health Disparities

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The New England Journal of Medicine

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Genetic Misdiagnoses and the Potential for Health Disparities

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Arjun K. Manrai

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Birgit H. Funke

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Bradley A. Maron

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David M. Margulies

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An integrated map of genetic variation from 1,092 human genomes

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

dbSNP: the NCBI database of genetic variation

Signals of recent positive selection in a worldwide sample of human populations

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

Shared genetic causes of cardiac hypertrophy in children and adults

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy

New approaches to disease mapping in admixed populations

Worldwide human relationships inferred from genome-wide patterns of variation

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655-665

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10.1056/NEJMSA1507092

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7

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375

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Peter Szolovits

Morten Salling Olesen

Joseph Loscalzo

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2016-08-18T00:00:00Z

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27532831

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health disparity

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5292722

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