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  • ClinGen/ClinVar数据库介绍- 知乎

    2021年11月25日 - 为了更好地开发新型诊断方法来检测和诊断遗传疾病,美国食品药品监督管理局(FDA)于2018年12月4日正式认可了首个包含基因和遗传变异数据的公...

    zhuanlan.zhihu.com/p/437691727

  • Welcome to ClinGen

    ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research..Does loss or gain of a copy of this gene or genomic region result in disease? Somatic Cancer Clinical Domain Working Group curates the clinical significance of genomic anoma...

    www.clinicalgenome.org

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    1分钟解读100万字长文
    60倍速提炼音视频重点和看点

  • clingene数据库使用- 云计算百科- 上云无忧

    数据库 Memcache版是基于内存的缓存服务,支持海量小数据的高速访问.云数据库 Memcache版可以极大缓解对后端存储的压力,提高网站或应用的响应速度。.

    www.shangyun51.com/wiki/index.php?doc-view-5...

  • Clinical Genomic Database

    All conditions with identified genetic causes are included in the CGD. For each entry, the database includes the gene symbol, condition(s), allelic conditions, inheritance, age (pediatricor adult) in which interventions are indicated, clinical categorization, and a genera....

    research.nhgri.nih.gov/CGD/

  • ClinGen · GitHub

    gene-and-variant-curation-tools gene-and-variant-curation-tools Public .curation.clinicalgenome.org .ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanfo...

    github.com/ClinGen

  • 3--遗传病—ClinGen数据库剂量敏感(CNV) - 知乎

    2022年9月4日 - 网站链接:https://clinicalgenome.org/.分别是ClinGen Dosage Sensitivity Map - Haploinsufficiency (单倍剂量不足);ClinGen Dosage Sensiti...
    共4张图片

    zhuanlan.zhihu.com/p/561077203

  • The Clinical Genome (ClinGen) Resource

    ClinGen collects phenotypic and clinical information on variants across the genome, develops consensus approaches to identifying their clinical relevance, and disseminates this information to researchers and clinicians. The resource will advance genomics in clinical care ....this group is focused on gene and variant curation through expert panels within the heari... ClinGen ecosystem and with the broader community. This team also works with standard...

    www.genome.gov/Funded-Programs-Projects/Clin...

  • ClinGen设定了基因及其变异在疾病中的重要性- 中国基因网

    共享数据并使其可访问是ClinVar的核心,ClinVar是变体及其临床解释的数据库,也是ClinGen的关键组成部分.虽然实验室和机构已经为他们积累的变种建立了数百个数据库,但ClinGen和ClinVar试图将它们组合成一个共同的中央数据库.

    www.cnjiyin.com/jiyinkepu/20181217_2335.html

  • clinvar数据库- 360文库

    阅读文档 7页 - 10.00元 - 上传时间:2021年5月8日

    简介网址:clinvarClinVar是NCBI主办的与疾病相关的人类基因组变异数据库。它的强大在于整合了dbSNP、dbVar、Pubmed、OMIM等多个数据库在遗传变异和临床表型方面...

    wenku.so.com/d/2b16f95ede25b198ed969cabb3f...

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