Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 65,106 bioRxiv papers from 288,545 authors.
Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders
Kaitlin E. Samocha,
Stefan H. Lelieveld,
Hilary C Martin,
Patrick J Short,
Elke de Boer,
Eugene J. Gardner,
Caroline F Wright,
Helen V Firth,
David R Fitzpatrick,
Jeffrey C Barrett,
Matthew E Hurles,
Posted 16 Oct 2019
bioRxiv DOI: 10.1101/797787
Posted 16 Oct 2019
De novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD). However, known DD-associated genes only account for a minority of the observed excess of such DNMs. To identify novel DD-associated genes, we integrated healthcare and research exome sequences on 31,058 DD parent-offspring trios, and developed a simulation-based statistical test to identify gene-specific enrichments of DNMs. We identified 299 significantly DD-associated genes, including 49 not previously robustly associated with DDs. Despite detecting more DD-associated genes than in any previous study, much of the excess of DNMs of protein-coding genes remains unaccounted for. Modelling suggests that over 500 novel DD-associated genes await discovery, 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 dominant DDs.
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