Qiagen, 834057, HGMD Online, Clinical Use, 5 Users

HGMD Online, Clinical Use, 5 Users

Features

- 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

Product Details

- 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 .