樱花云免费永久加速-hammer加速器

In both research and clinical settings, the majority of patients with rare disease lack a clear etiology after exome and genome sequencing. Finding just a single additional case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits in isolated databases.

樱花云免费永久加速-hammer加速器

The 'Matchmaker Exchange' project was launched in October 2013 to address this challenge and find genetic causes for patients with rare disease. This involves a large and growing number of teams and projects working towards a federated platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking) through standardized application programming interfaces (APIs) and procedural conventions.

樱花云免费永久加速-hammer加速器

樱花云免费永久加速-hammer加速器

  • DECIPHER
  • GeneMatcher
  • 内蒙古新增境外新冠肺炎输入确诊和疑似病例4例-解决网:2021-6-12 · 抗击新冠肺炎)内蒙古新增境外新冠肺炎输入性确诊病例和疑似病例4例 中新网呼和浩特3月25日电 (记者 张玮)25日凌晨,内蒙古自治区卫生健康委发布消息:2021年3月20日20时至24日22时,内蒙古报告新增境外新冠肺炎输入性病例4例,其中2例 ...
  • MyGene2
  • PatientMatcher
  • PhenomeCentral
  • RD-Connect Genome-Phenome Analysis Platform
  • seqr

樱花云免费永久加速-hammer加速器

Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea M, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL. 2015. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36: 915–921. doi:10.1002/humu.22858 [BibTex]

樱花云免费永久加速-hammer加速器

Representatives from the following organizations participate in Matchmaker Exchange:
  • AGHA Patient Archive
  • 手机怎么翻外国网络
  • Centers for Mendelian Genomics
  • ClinGen GenomeConnect
  • 手机怎么登录国外网
  • LOVD
  • Manton Center for Orphan Disease Research
  • Undiagnosed Diseases Network
Does your organization participate? Email us at info@matchmakerexchange.org to be added to the list.

樱花云免费永久加速-hammer加速器

This project is funded by database participants and these organizations:
手机翻国外网站教程

The Matchmaker Exchange is supported by CanSHARE, International Rare Diseases Research Consortium (IRDiRC), NIH Centers for Mendelian, Genomics, Genome Canada, CIHR, Care4Rare, RD-Connect (EU FP7 #305444).

樱花云免费永久加速-hammer加速器

For more information or to provide feedback on the website, please contact info@matchmakerexchange.org
神灯vp n ios  v2rayng官网官网网址,v2rayng官网永久免费加速,v2rayng官网免费试用,v2rayng官网2024  express加速器官网,express加速器官方网址,express加速器vnp,express加速器7天试用  新版电脑,快连pn下载,快连app官网,新版2024  云末加速器破解版,云末加速器永久免费加速,云末加速器不能用了,云末加速器vp  可莉机场下载地址,可莉机场npv,可莉机场永久免费加速,可莉机场2024年  AAEX破解版,AAEXios下载,AAEX免费永久加速,AAEX用不了了