--- title: Evidence for 28 Genetic Developmental Disorders Found by Combining Healthcare and Research Data description: The Deciphering Developmental Disorders (DDD) project aims to find as many genes, including de novo variations, associated with developmental disorders as possible. In this study, they have integrated clinical record data and whole exome sequence (WES) data from 31,058 parent–offspring trios. image: https://variants.varsome.com/hubfs/GV_1200x628_BioInformatics-1.jpg --- [![VarSome](https://variants.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png)](https://varsome.com/) - Editions - [More about VarSome.com](https://varsome.com/varsome-editions/varsome/) - [More about VarSome Premium](https://varsome.com/varsome-editions/varsome-premium/) - [More about VarSome Clinical](https://varsome.com/varsome-editions/varsome-clinical/) - [Learn more about APIs](https://varsome.com/information/varsome-api-info/) - About - Resources - [Library](https://varsome.com/library/) - [Documentation](https://docs.varsome.com/) - [Query types](https://varsome.com/about/examples/) - [IVDR](https://landing.varsome.com/ivdr-whitepaper) - [Germline Classification](https://varsome.com/about/resources/acmg-implementation/) - [Somatic Classification](https://varsome.com/about/resources/amp-implementation/) - Partners - [Distributors](https://varsome.com/distributors/) - [Partners](https://varsome.com/partners/) - [Become a partner](https://landing.varsome.com/become-varsome-partner) - General - [The Company](https://saphetor.com/about/) - [Cite VarSome](https://varsome.com/about/varsome-citations/) - [Link to VarSome](https://varsome.com/how-do-i-create-link-varsome/) - [Contact](https://landing.varsome.com/contact) - [Community](https://varsome.com/community-contributions/) - [Blog](https://blog.varsome.com/) [Variant Views](https://variants.varsome.com/en/tag/variant-views) # Evidence for 28 Genetic Developmental Disorders Found by Combining Healthcare and Research Data By [Malorye Branca](https://variants.varsome.com/en/author/malorye-branca) on March, 5 2021 ### Categories - Select a Topic - [All](https://variants.varsome.com/en) - [Variant Views](https://variants.varsome.com/en/tag/variant-views) - [Community](https://variants.varsome.com/en/tag/community) ### Stay up to date ##### Search The Blog [Back to main Blog](https://variants.varsome.com/en) [![](https://variants.varsome.com/hs-fs/hubfs/mabranca.jpg?height=100&name=mabranca.jpg)](https://variants.varsome.com/en/author/malorye-branca#blog-listing-section) ###### [Malorye Branca](https://variants.varsome.com/en/author/malorye-branca#blog-listing-section) Primary reference: [Kaplanis, J. et al. *Nature,* Oct. 14. 2020](https://doi.org/10.1038/s41586-020-2832-5). **Conditions:** Developmental disorders.  To identify previously undescribed genes associated with developmental disorders, researchers have integrated healthcare (clinical record) and research exome-sequence data from 31,058 parent–offspring trios of individuals with developmental disorders, and developed a simulation-based statistical test to identify gene-specific enrichment of de novo mutations. This study is part of the Deciphering Developmental Disorders project which has spent four years collecting DNA and clinical information from over 12,000 undiagnosed children and adults in the UK with developmental disorders and their parents.  They identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders. Much of the excess of de novo mutations in protein-coding genes remains unaccounted for. They note that: "Modelling suggests that more than 1,000 genes associated with developmental disorders have not yet been described, many of which are likely to be less penetrant than the currently known genes. Research access to clinical diagnostic datasets will be critical for completing the map of genes associated with developmental disorders" Sequence and variant-level data and phenotypic data for the Deciphering Developmental Disorders study data are available from the European Genome-phenome Archive (EGA; [https://www.ebi.ac.uk/ega/](https://www.ebi.ac.uk/ega/)) with study ID EGAS00001000775   Additional resource: The DDD has produced more than 200 publications which are available at [its website](https://www.ddduk.org/publications.html).   Submit your variant news or suggestions to:  **press@varsome.com** [Previous Post](https://variants.varsome.com/en/genetic-mechanisms-of-critical-illness-in-covid-19) [Next Post](https://variants.varsome.com/en/massively-parallel-functional-testing-of-msh2-missense-variants-conferring-lynch-syndrome-risk) #### Submit a Comment ### Stay up to date ## Latest News [See all blog posts](https://blog.varsome.com) ![](https://variants.varsome.com/hubfs/VarSome_February2020%20Theme/Images/logo.png) - VarSome Suite - [VarSome.com](https://saphetor.com/varsome-editions/varsome/) - [VarSome Premium](https://saphetor.com/varsome-editions/varsome-premium/) - [VarSome Clinical](https://saphetor.com/varsome-editions/varsome-clinical/) - [VarSome API](https://varsome.com/information/varsome-api-info/) - System Status - [System Status](http://status.saphetor.com/) - Resources - [Query Examples](https://varsome.com/about/examples/) - [Documentation](https://docs.varsome.com/) - [Help Center](https://docs.varsome.com/en) - [Cite VarSome](https://news.varsome.com/en/cite-varsome-the-human-genomic-variant-search-engine) - The Company - [About Saphetor SA](https://saphetor.com/about/) - [News](https://blog.varsome.com) - [Distributors](https://landing.varsome.com/distributors) - [Contact](https://saphetor.com/contact/) - Legal - [Terms of Use](https://varsome.com/terms/) - [Privacy Policy](https://varsome.com/privacy/) VarSome Suite is brought to you by [Saphetor SA](https://saphetor.com). © 2024 Saphetor SA – All Rights Reserved.