World’s Largest Collection of Annotations

GenomeQuest integrates the world’s largest collection of annotation and reference databases for IP clearance, variation discovery, and genome-wide annotation of variation. Core sequence databases include:

A full list is available in the GenomeQuest Wiki.

In addition, extensive genome variation annotation exists and is available for resequencing studies. These include:

  • dbSNP
  • Refseq genes
  • Refseq exons
  • Refseq proteins
  • OMIM
  • Repeats
  • Splice sites
  • pharmGKB
  • GeneTests

Sequences and annotations are systematically collected, cleaned, and normalized. All data is accessible for integrated searching and comparisons from the dashboard, workflows, or the APIs. Data is updated, recalculated, and refreshed as new data and studies are released.

Users and organizations can also add, combine, and save their own datasets in GenomeQuest – removing all silos from their sequence and annotation data across their projects.

* Now Including HGMD from Biobase International
GenomeQuest users now have built-in access to HGMD, Biobase‘s comprehensive database of mutation/binding site/disease genes. In GenomeQuest, users identify variants, activate the HGMD tracks, and can then select, filter, and analyze in an enriched biological/medical context. HGMD is available for purchase from GenomeQuest.

HGMD® Professional is a unique resource providing comprehensive data on human inherited disease mutations. Its compilation of structured, manually curated data from the peer-reviewed literature enables quick access to both single mutation queries and advanced search applications. HGMD® is widely used in human genetics research, diagnostics, and personal genomics applications and was an essential tool in analyzing the genomes of James D. Watson and J. Craig Venter.