QIAGEN Digital Insights is introducing a new login URL to access HGMD, ANNOVAR, Genome Trax, and PGMD. This new login will be more robust with enhanced security and built-in privacy. If you need access to other QIAGEN Digital Insights products, such as QIAGEN Ingenuity Pathway Analysis (IPA) and QIAGEN Clinical Insights (QCI), you will use the same login ID.
We will roll-out this new login URL to select HGMD, ANNOVAR, Genome Trax, and PGMD users mid-August 2020. Please look for the welcome email with the new login information, including the new login URL for accessing your database and downloads. Be sure to check your spam and trash folders.
Users with subscriptions that end in 2021 or beyond will receive notice to bookmark the new login URL and use this method going forward. For users with subscriptions ending at the completion of 2020, please continue to use the existing login portal.
If you have questions about this new login procedure, please contact us at ts-bioinformatics@qiagen.com
As part of our effort to provide enhanced user experiences for the Human Gene Mutation Database (HGMD) Professional, we are updating the HGMD Professional login system to deliver a state-of-the-art, streamlined, and secure access portal. Moving forward, all current users will have one login ID for HGMD Professional, GenomeTrax, and ANNOVAR, as well as other QIAGEN Digital Insights products.
Starting on June 1, 2020, the new QIAGEN Digital Insights login portal will require some login IDs (usernames) to be in the form of an email address. This will ensure username uniqueness, provide an easier way to remember your login ID, and enable Customer Support to readily identify which specific user is having an issue, so that they can interact with the affected user swiftly, rather than mediating through an account coordinator.
In addition, login IDs must be an institutional email address. This will ensure that your purchased license stays with your institution and that organizations have greater control over who accesses these resources.
No action is needed before June 1, 2020. Users who already login using their email address as their username will not be affected by this change.
After June 1, 2020, you can only login to HGMD using your email address as your username (your old username will not work).
If you would like to re-register your account and reset your username to a preferred email address, please click on the link below and be sure to have your license key readily available.
(Please use your IPA, IVA, or QCI login ID if you have one)
If you need assistance with re-registering your user account, please reach out to bioinformaticslicense@qiagen.com.
The spring release of HGMD Professional now contains a total of 224,642 mutation entries. That's 4,372 more mutation entries than the previous release. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
View the complete HGMD statistics
New HGMD feature
The batch search mode will now allow prioritization of variants by class (eg. DM class).
HGMD Professional is one of the most valuable resource in variant interpretation and research. Click below to download our whitepaper on how HGMD Pro helps clinical labs avoid the clinical blindspot which providing the most comprehensive resource for published, disease-causing, germline mutations.
This new version of ANNOVAR contains some minor fixes and improvements: fixed a bug in calculating upstream distance that print when -separate is specified in annotate_variation.pl, improvements to coding_change.pl to report more stopgain/stoploss and fix use-of-uninitialized-value issue, slight change to convert2annovar.pl to handle mal-formed VCF file. Per user request, we have now made hg38 version of ensGene available through ANNOVAR directly so that users do not need to build it themselves. avsnp150 is available through ANNOVAR now in hg19 and hg38 coordinate, to annotate your variants with dbSNP identifiers. Finally, the tatest clinvar (20170905) is available now through ANNOVAR in hg19 and hg38 coordinates. A long-standing problem on multi-allelic variants in ClinVar is now addressed, so that multi-allelic variants are now correctly assigned to the corresponding benign/pathogenic categories. The 20170130/20170501 versions are also updated to resolve this issue.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2018.1, PROTEOME™ release 2018.1.
The winter release of HGMD Professional now contains a total of 220,270 mutation entries. That’s 6,112 more mutation entries than the previous release. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
View the complete HGMD statistics.
New HGMD feature
HGVS nomenclature has been added for the non-coding micro-lesions and regulatory substitutions.
HGMD Professional is one of the most valuable resource in variant interpretation and research. Click here to download our white paper on how HGMD Pro helps clinical labs avoid the clinical blind spot which providing the most comprehensive resource for published, disease-causing, germline mutations.
There are no new updates with ANNOVAR with this release.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2017.3, PROTEOME™ release 2017.3. Release notes can be found here.
The fall release of HGMD Professional now contains a total of 214,158 mutation entries. That’s 5,790 more mutation entries than the previous release. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
View the complete HGMD statistics
New HGMD feature
The original extended cDNA sequences were only available for a small number of genes, and have been out of date for some time. We have now added a link to a new extended cDNA sequence for each gene based on hg38 sequence and annotations. The sequence is shown split between the full exonic sequence in uppercase, and 50 bp of flanking intronic sequence in lowercase. Exon numbering is sequential. This feature is under ongoing development, and we plan to add in further CDS annotations at a later date. The old extended cDNA sequences, along with the old mutation viewer will be removed from HGMD Professional for the 2018.1 release.
If you are interested into a clinical-grade pathogenicity assessment for a given variant implementing the ACMG guidelines and including additional supporting data such as case counts in a hereditary cancer context, we recommend you take a look at QIAGEN Clinical Insight for Hereditary Cancer, which includes HGMD. The following is a table summarizing key features between HGMD Public, Pro, and QIAGEN Clinical Insights (QCI).
2017 July 16
ANNOVAR new version is available now! You can use the old link to download, or you can register again to get download email. This release contains some minor fixes and improvements: fixed a bug in calculating upstream distance that print when -separate is specified in annotate_variation.pl, improvements to coding_change.pl to report more stopgain/stoploss and fix use-of-uninitialized-value issue, slight change to convert2annovar.pl to handle mal-formed VCF file.
2017 September 12
There is now an hg38 version of ensGene available through ANNOVAR directly so that users do not need to build it themselves.
2017 September 29
2017Sep29: avsnp150 is available through ANNOVAR now in hg19 and hg38 coordinate, to annotate your variants with dbSNP identifiers.
2017 October 13
Latest clinvar (20170905) is available now through ANNOVAR in hg19 and hg38 coordinates. A long-standing problem on multi-allelic variants in ClinVar is now addressed, so that multi-allelic variants are now correctly assigned to the corresponding benign/pathogenic categories. The 20170130/20170501 versions are also updated to resolve this issue.
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2017.3, and PROTEOME™ release 2017.3. Release notes can be found here.
The summer release of HGMD Professional now contains a total of 208,368 mutation entries. That’s 4,483 more mutation entries than the previous release. Unlike other mutation databases, HGMD mutations are all backed by peer-reviewed publications where there is evidence of clinical impact.
View the complete HGMD statistics
New HGMD feature
The original mutation viewer no longer reliably functions in many web browsers due to support for NPAPI being dropped by several vendors. There is a replacement now available (link via the HGMD gene home pages) which maps coding region mutations on to the HGMD cDNA sequence, via the cDNA page. This feature is under ongoing development.
If you are interested into a clinical-grade pathogenicity assessment for a given variant implementing the ACMG guidelines and including additional supporting data such as case counts in a hereditary cancer context, we recommend you take a look at QIAGEN Clinical Insight for Hereditary Cancer, which includes HGMD. The following is a table summarizing key features between HGMD Public, Pro, and QIAGEN Clinical Insight (QCI).
The following new database updates have been made available in ANNOVAR since the last release announcement.
Updated tracks have been released concurrent with the HGMD release for all HGMD-related tracks. Additional major tracks updated include TRANSFAC® release 2017.2, and PROTEOME™ release 2017.2. Release notes can be found here.
Note: This release will be available from July 7, 2017.
