HGMD® Professional version 2018.4 contains a total of 248,700 mutations entries—that’s 8,431 more mutation entries than the previous release!
Unlike other mutation databases, HGMD mutations are backed by peer-reviewed publications where there is evidence of clinical impact—and the gold-standard, industry-leading resource just got better.
View the complete HGMD Professional statistics here.
New Features:
View ClinVar links and predicted classifications via Batch Search.
When using Batch Search, the results table will now include a ClinVar column to the far right. This column will provide links to ClinVar records and list predicted classifications.
Obtain HGVS compliant protein (p-dot) nomenclature for small deletions.
Interpreting clinical test results?
Read about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
Get the most out of your HGMD subscription!
Learn how to take advantage of all HGMD’s features by watching our video tutorials available at our Resources Page.
ANNOVAR
New ANNOVAR databases are now available!
- The dbSNFP scores in ANNOVAR are updated to version 3.5a (use dbnsfp35a to download). The regsnpintron database has been updated to resolve problems in certain lines of the file.
- The non-commercial dbSNFP scores in ANNOVAR have been updated to version 3.5c (usee dbnfp35c to download).
- The MCAP score v1.3 is available for hg19 coordinates (use mcap13 to download).
- The ABRAOM score (Brazilian genomic variants) has been updated (~1000 lines in previous versions do not have abraom_cagh_filter).
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Watch a recorded webinar featuring ANNOVAR here.
GENOME TRAX™
Genome Trax 2018.4 has updated tracks containing the 2018.4 HGMD release or all HGMD-related tracks.
QIAGEN Clinical Insight
Need a clinical genomic interpretation solution?
Look no further than QIAGEN Clinical Insight (QCI). Offering the highest level of interpretation transparency currently available on the market, QCI dynamically computes ACMG classification and AMP-tiering based on phenotype and clinical evidence. QCI incorporates knowledge from HGMD, CentoMD, over 30 public and proprietary databases, and over 2,000 scientific and clinical articles manually curated each month.
Kick start your year and sign-up for a free QCI demo here!