GENOME-SCALE NGS DATA
ANALYSIS AND INTERPRETATION

Mondo and PanelApp added to VarSome

Posted by Richard Meyer on Sep 26, 2018 12:56:18 PM

panelapp

Over the weekend we released an updated version of VarSome, with a number of improvements across the board, as well as two new databases.

Monarch Disease Ontology (MONDO)

MONDO is a semi-automatically constructed ontology that merges in multiple disease resources to yield a coherent merged ontology [1]. This excellent resource integrates a number of disease databases in a hierarchical graph and is itself well integrated with the Human Phenotype Oncology (which is also available on VarSome).

mondo

Genomics England PanelApp

PanelApp is a publicly available knowledge base that allows virtual gene panels related to human disorders to be created, stored and queried. It includes a crowd sourcing tool that allows genes to be added or reviewed by experts throughout the worldwide scientific community, providing an opportunity for the standardization of gene panels, and a consensus on which genes have sufficient evidence for disease association [2]. The diagnostic grade ‘Green’ genes and their modes of inheritance in the PanelApp virtual gene panels are used to direct the variant tiring process for the interpretation of genomes in the 100,000 Genomes Project. PanelApp is available on the gene pages.

Other changes

  • Improved functional annotation and HGVS DNA-level variant identifiers.

hgvs

  • Added synonymous, missense and CNV Z-scores from ExAC genes.

z-score

[1] http://www.obofoundry.org/ontology/mondo.html#

[2] https://panelapp.genomicsengland.co.uk/#

Topics: Platform Updates

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