Qiagen/HGMD/834050
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商品介绍
HGMD
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The gold standard resource for comprehensive data on published human inherited disease mutations.
- 220,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM
- 8,000+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes
- Advanced search functionality, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region
- A mutation visualization tool which provides a graphical representation of the aligned DNA and protein sequences with color-coded mutated nucleotides for a selected gene.
- Ability to export customized mutation tracks for use in 3rd party genome browsers and analysis tools
QIAGEN database offerings: QIAGEN offers databases containing manually curated findings from the scientific literature organized in computationally accessible formats. The databases span a diverse array of topics including inherited disease mutations, images of syndromes and undiagnosed malformations, and experimentally described transcription factor binding sites and compiled positional weight matrices.Learn more about HGMD.
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Cat No./ID:834050 HGMD Online, Named User License Log in to see pricing Annual subscription to HGMD, a comprehensive database of published inherited disease mutations. Allows access for 1 named user. |
Cat No./ID:834052 HGMD Online, Research Use, 5 Users Log in to see pricing HGMD Online, Research Use, 5 Users |
Cat No./ID:834056 HGMD Online, Clinical Use, 1 User Log in to see pricing HGMD Online, Clinical Use, 1 User |
Cat No./ID:834057 HGMD Online, Clinical Use, 5 Users Inquire HGMD Online, Clinical Use, 5 Users |
Cat No./ID:834058 HGMD Online, Clinical Use, 10 Users Inquire HGMD Online, Clinical Use, 10 Users |
Cat No./ID:834059 HGMD Online, Clinical Use, Site License Inquire HGMD Online, Clinical Use, Site License |
Cat No./ID:834061 HGMD Download, Research Use, Lab Inquire HGMD Download, Research Use, Lab |
Cat No./ID:834062 HGMD Download, Research Use, Department Inquire HGMD Download, Research Use, Department |
Cat No./ID:834063 HGMD Download , Clinical Use Inquire HGMD Download , Clinical Use |
Cat No./ID:834064 HGMD Download, Research Use, Institute Inquire HGMD Download, Research Use, Institute |
Product Details
Performance
170,000+ mutation reports including specifics on genome coordinates, sequence details, and links to the source reference as well as public resources like dbSNP and OMIM. 6,800+ summary reports listing all known inherited disease mutations for a given gene characterized by six different pathogenic variant classes.Advanced search functionality, including the ability to find mutations based on the type of nucleotide or amino acid change, or their location in a specific motif, splice site, or regulatory region.A mutation visualization tool which provides a graphical representation of the aligned DNA and protein sequences with color-coded mutated nucleotides for a selected gene.Ability to export customized mutation tracks for use in 3rd party genome browsers and analysis tools.
Principle
HGMD On-line:The easy to use online interface enables quick look up of individual mutations and well as advanced search applications for identifying all published mutations known to be associated with a particular gene or disease, and much more.
Product Resources
品牌介绍
QIAGEN是一家专业化致力于生物分子样品制备解决方案的跨国经营企业，总部位于德国。1984年，QIAGEN在德国成立，1996年在美国纽约纳斯达克上市。QIAGEN拥有超过1000项专利和认可证明，在18个国家设立了分公司，代理商服务国超过40个，在全球有超过400000的用户。QIAGEN提供的产品超过500类，包括各种试剂，耗材和自动化纯化工作站。这些产品用于样品采集，稳定，核酸或蛋白的分离，纯化和检测中，不仅广泛的应用于科研领域的各个方面，在生物技术，制药，法医研究，食品安全检测，畜牧业和分子诊断领域也得到了广泛的应用。QIAGEN产品的卓越品质和在应用中的出色表现使得其成为样品处理中标准的代名词。
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