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PanelSearch

This service allows users to search gene panel data related to approximately 10,000 rare and genetic disorders in humans in various ways, and to download the resulting data.

You can search for your target gene panel data using a variety of methods.

This service enables users to efficiently find gene panel data through multiple search methods, such as partial disease names, gene names, and category-based classification.

You can download gene panel data.

You can download individual gene panel data related to rare and genetic disorders, as well as all 9,998 gene panel records at once.

This helps facilitate the efficient clinical interpretation of genomic data.

For more details, please refer to the following publication.
in, J., Fujiwara, T., Saitsu, H., & Yamaguchi, A. (2025). Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases. BMC medical informatics and decision making, 25(Suppl 1), 59.

Gene panel data for disease groups are being developed based on international public databases.

PanelSearch leverages the Monarch Disease Ontology (Mondo), a vocabulary resource for rare and genetic diseases, to automatically retrieve causative genes for each disease from major international public databases, including MedGen, Orphanet, and GenCC.

Useful features of PanelSearch Pickup
PickupPanelSearch offers three types of search methods

You can search by "gene panel name," "gene name," or through the "gene panel tree structure categorized by category."

PickupDisplay related trees from search results

You can display the location of the corresponding panel within the tree based on the search results.

PickupDownload all 9,998 gene panel records

You can download all gene panel data at once.

How to Use
Three types of search methods

Panel Search

Search by Gene Panel Name

Displays a list of gene panels related to the entered keyword.

Gene Search

Search by Gene Name

Displays a list of gene panels that include the entered gene(s). By separating gene names with spaces, you can search using a combination of multiple genes.

Tree Search

Search from the gene panel tree structure categorized by category

You can find your target gene panel through the tree structure of gene panels organized by categories.

Display gene lists

You can display the gene list by clicking [Genes + Show] in the individual gene panel view.

Bulk download of all gene panel data

You can download all 9,998 gene panel records at once.

Download individual gene panel data

You can download individual gene panel data in .txt format.

Copy gene panel information

With a simple button click, you can easily copy gene panel information to the clipboard and paste it into your own local files.

Display related category trees from search results

From the individual display of a gene panel in the search results, you can view the location of the corresponding panel within the tree structure.

Easily view browsing history

You can freely navigate your viewing history using the undo and redo functions.