A resource to provide a public, tra

A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information in the NIH Genetic Testing Registry (GTR), MedGen, Gene, OMIM, PubMed and other sources is accessible through hyperlinks on the records.Database of Genomic Structural Variation (dbVar) The dbVar database has been developed to archive information associated with large scale genomic variation, including large insertions, deletions, translocations and inversions. In addition to archiving variation discovery, dbVar also stores associations of defined variants with phenotype information.Database of Genotypes and Phenotypes (dbGaP) An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits. Database of Short Genetic Variations (dbSNP) Includes single nucleotide variations, microsatellites, and small-scale insertions and deletions. dbSNP contains population-specific frequency and genotype data, experimental conditions, molecular context, and mapping information for both neutral variations and clinical mutations.Genetic Testing Registry (GTR) A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

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结果 (简体中文) 1: [复制]

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一种资源，可提供公开的跟踪记录，记录人类变异与观察到的健康状况之间的关系，并提供佐证。可通过记录上的超链接访问NIH基因测试注册中心（GTR），MedGen，Gene，OMIM，PubMed和其他来源中的相关信息。 基因组结构变异数据库（dbVar） 已开发dbVar数据库以存档与大规模基因组变异相关的信息，包括大的插入，缺失，易位和倒位。除了存档变异发现外，dbVar还存储已定义变异与表型信息的关联。 基因型和表型数据库（dbGaP） 一个档案和分发中心，用于描述研究基因型和表型之间相互作用的描述和结果。这些研究包括全基因组关联（GWAS），医学重测序，分子诊断分析以及基因型和非临床性状之间的关联。 短遗传变异数据库（dbSNP） 包括单核苷酸变异，微卫星以及小规模的插入和缺失。dbSNP包含特定于人群的频率和基因型数据，实验条件，分子环境以及中性变异和临床突变的图谱信息。 基因测试注册处（GTR） 自愿进行基因检测和实验室注册，并提供有关检测的详细信息，例如所测物，分析结果和临床有效性。GTR还是有关遗传状况信息的纽带，并提供与特定资源相关的特定于上下文的链接，包括实践指南，已出版的文献以及遗传数据/信息。GTR的初始范围包括针对孟德尔疾病的单基因检测，以及阵列，检测和药物遗传学检测。

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结果 (简体中文) 2:[复制]

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A resource to provide a public, tracked record of reported relationships between human variation and observed health status with supporting evidence. Related information in the NIH Genetic Testing Registry (GTR), MedGen, Gene, OMIM, PubMed and other sources is accessible through hyperlinks on the records. Database of Genomic Structural Variation (dbVar) The dbVar database has been developed to archive information associated with large scale genomic variation, including large insertions, deletions, translocations and inversions. In addition to archiving variation discovery, dbVar also stores associations of defined variants with phenotype information. Database of Genotypes and Phenotypes (dbGaP) An archive and distribution center for the description and results of studies which investigate the interaction of genotype and phenotype. These studies include genome-wide association (GWAS), medical resequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits. Database of Short Genetic Variations (dbSNP) Includes single nucleotide variations, microsatellites, and small-scale insertions and deletions. dbSNP contains population-specific frequency and genotype data, experimental conditions, molecular context, and mapping information for both neutral variations and clinical mutations. Genetic Testing Registry (GTR) A voluntary registry of genetic tests and laboratories, with detailed information about the tests such as what is measured and analytic and clinical validity. GTR also is a nexus for information about genetic conditions and provides context-specific links to a variety of resources, including practice guidelines, published literature, and genetic data/information. The initial scope of GTR includes single gene tests for Mendelian disorders, as well as arrays, panels and pharmacogenetic tests.

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结果 (简体中文) 3:[复制]

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提供一个公共的，跟踪记录人类变异和观察到的健康状况之间关系的资源，并提供支持证据。美国国立卫生研究院遗传检测注册中心（GTR）、MedGen、Gene、OMIM、PubMed和其他来源的相关信息可通过记录上的超链接访问。 基因组结构变异数据库 dbVar数据库已经被开发用来存档与大规模基因组变异相关的信息，包括大的插入、缺失、易位和反转。除了存档变异发现，dbVar还存储定义的变体与表型信息的关联。 基因型和表型数据库（dbGaP） 研究基因型和表型相互作用的描述和结果的档案和分发中心。这些研究包括全基因组关联（GWAS）、医学重测序、分子诊断分析以及基因型与非临床特征之间的关联。 短基因变异数据库（dbSNP） 包括单核苷酸变异、微卫星和小规模的插入和缺失。dbSNP包含群体特定频率和基因型数据、实验条件、分子背景和中性变异和临床突变的定位信息。 基因检测注册（GTR） 基因测试和实验室的自愿注册，包含测试的详细信息，如测试的内容、分析和临床有效性。GTR也是遗传条件信息的连接点，并提供与各种资源（包括实践指南、出版文献和遗传数据/信息）的上下文特定链接。GTR的初始范围包括孟德尔疾病的单基因测试，以及阵列、面板和药物遗传学测试。

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