QIAGEN powered by

Clinical
Wednesday, April 3, 2019

HGMD 2019.1 hits major milestone

Over a quarter million germline mutations catalogued

HGMD now contains 256,070 germline mutations

As of March 29, 2019, HGMD contains over 256,070 germline mutations–a major achievement in our understanding of rare and hereditary disease. For years, HGMD has been recognized as the defacto standard repository for heritable mutations. Curated by experts in the field of genetics, HGMD offers information you can trust, with an unrivaled breadth of coverage. The proof is in the numbers:

256,070 expert-curated, disease-causing germline variants

10,500+ summary reports listing all known inherited disease mutations

2,600+ peer-review journals mined by experts in the field of genetics

104,000+ peer-reviewed literature reports cited

14,500+ scientific publications cite HGMD

17,000+ new mutation entries per year

View the complete HGMD statistics

New Feature: Additional literature evidence by function, phenotype, and/or case reports

Mutations may now be viewed according to whether they have additional literature evidence (browse mutations – additional literature evidence). Categories include additional functional evidence, additional phenotypes and additional case reports.

White Paper: QIAGEN Knowledge Base and ClinVar: Avoiding the Knowledge Blind Spot

Learn from one reference lab’s mistake and avoid missing critical evidence in the NGS interpretation process.  Read white paper

To get the most out of your HGMD subscription, please watch the video tutorials available at our Resources webpage.

ANNOVAR

New ANNOVAR databases are now available.

  • The ClinVar scores (hg19/hg38) are updated to 20190305 version.
  • gnomAD exome collection (v2.1.1) of 17.2 million variants, with “AF AF_popmax AF_male AF_female AF_raw AF_afr AF_sas AF_amr AF_eas AF_nfe AF_fin AF_asj AF_oth non_topmed_AF_popmax non_neuro_AF_popmax non_cancer_AF_popmax controls_AF_popmax” header is available from ANNOVAR.

Learn more about how ANNOVAR can be used with HGMD for variant annotation.

Watch a recorded webinar featuring ANNOVAR here.

Genome Trax™ (Available April 15, 2019)

Updated tracks have been released with HGMD 2019.1 content for all HGMD-related tracks.  Additional major updates include TRANSFAC® release 2019.1, and PROETOME™ release 2019.1.


Looking to expand beyond hereditary testing?

You have HGMD; why not upgrade to QIAGEN Clinical Insight (QCI) Interpret?

QCI Interpret for Rare and Hereditary Disease is clinical decision support software that provides current scientific and clinical evidence to classify variants according to ACMG and ACOG interpretation guidelines.

QCI Interpret connects you to HGMD, plus 25 additional public and propriety sources. The software provides you with an expansive variant bibliography with full transparency to the underlying evidence, enabling you report confidently and scale efficiently. Learn more