Published July 5, 2021 | Version 1
Dataset Open

Phenopackets for case reports of structural variants

Authors/Creators

  • 1. The Jackson Laboratory for Genomic Medicine

Description

A collection of 188 published deleterious structural variants based on 182 cases published in 146 clinical case reports that describe individuals with Mendelian diseases.

Files

phenopackets.structural-variants.zip

Files (387.7 kB)

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md5:3db4b4e7ce99e03476f3265cd6df75d5
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Additional details

Funding

European Commission
Solve-RD - Solving the unsolved Rare Diseases 779257