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
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
To get the most out of your HGMD subscription, please watch the video tutorials available at our Resources webpage.
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)
Looking to expand beyond hereditary testing?
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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.
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