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2. Evidence for 28 genetic disorders discovered by combining healthcare and research data

Author

Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., and Gallone, Giuseppe

Subjects
Genetic disorders -- Discovery and exploration, Medical research -- Usage, Medicine, Experimental -- Usage, Medical statistics -- Usage, Evidence-based medicine -- Analysis, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

De novo mutations in protein-coding genes are a well-established cause of developmental disorders.sup.1. However, genes known to be associated with developmental disorders account for only a minority of the observed excess of such de novo mutations.sup.1,2. Here, to identify previously undescribed genes associated with developmental disorders, we integrate healthcare and research exome-sequence data from 31,058 parent-offspring trios of individuals with developmental disorders, and develop a simulation-based statistical test to identify gene-specific enrichment of de novo mutations. We identified 285 genes that were significantly associated with developmental disorders, including 28 that had not previously been robustly associated with developmental disorders. Although we detected more genes associated with developmental disorders, much of the excess of de novo mutations in protein-coding genes remains unaccounted for. 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. By integrating healthcare and exome-sequencing data from parent-offspring trios of patients with developmental disorders, 28 genes that had not previously been associated with developmental disorders were identified., Author(s): Joanna Kaplanis [sup.1] , Kaitlin E. Samocha [sup.1] , Laurens Wiel [sup.2] [sup.3] , Zhancheng Zhang [sup.4] , Kevin J. Arvai [sup.4] , Ruth Y. Eberhardt [sup.1] , Giuseppe [...]

Published
2020
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5. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Author

Kaplanis, Joanna, Samocha, Kaitlin E., Wiel, Laurens, Zhang, Zhancheng, Arvai, Kevin J., Eberhardt, Ruth Y., Gallone, Giuseppe, Lelieveld, Stefan H., Martin, Hilary C., McRae, Jeremy F., Short, Patrick J., Torene, Rebecca I., de Boer, Elke, Danecek, Petr, Gardner, Eugene J., Huang, Ni, Lord, Jenny, Martincorena, Iñigo, Pfundt, Rolph, Reijnders, Margot R. F., Yeung, Alison, Yntema, Helger G., Vissers, Lisenka E. L. M., Juusola, Jane, Wright, Caroline F., Brunner, Han G., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Gilissen, Christian, and Retterer, Kyle

Abstract

Summary 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.

Published
2019
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6. Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disorders

Author

Kaplanis, Joanna, primary, Samocha, Kaitlin E., additional, Wiel, Laurens, additional, Zhang, Zhancheng, additional, Arvai, Kevin J., additional, Eberhardt, Ruth Y., additional, Gallone, Giuseppe, additional, Lelieveld, Stefan H., additional, Martin, Hilary C., additional, McRae, Jeremy F., additional, Short, Patrick J., additional, Torene, Rebecca I., additional, de Boer, Elke, additional, Danecek, Petr, additional, Gardner, Eugene J., additional, Huang, Ni, additional, Lord, Jenny, additional, Martincorena, Iñigo, additional, Pfundt, Rolph, additional, Reijnders, Margot R. F., additional, Yeung, Alison, additional, Yntema, Helger G., additional, Study, DDD, additional, Vissers, Lisenka E. L. M., additional, Juusola, Jane, additional, Wright, Caroline F., additional, Brunner, Han G., additional, Firth, Helen V., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Gilissen, Christian, additional, and Retterer, Kyle, additional

Published
2019
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8. Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Author

Kaplanis, Joanna, primary, Samocha, Kaitlin E., additional, Wiel, Laurens, additional, Zhang, Zhancheng, additional, Arvai, Kevin J., additional, Eberhardt, Ruth Y., additional, Gallone, Giuseppe, additional, Lelieveld, Stefan H., additional, Martin, Hilary C., additional, McRae, Jeremy F., additional, Short, Patrick J., additional, Torene, Rebecca I., additional, Boer, Elke de, additional, Danecek, Petr, additional, Gardner, Eugene J., additional, Huang, Ni, additional, Lord, Jenny, additional, Martincorena, Iñigo, additional, Pfundt, Rolph, additional, Reijnders, Margot R. F., additional, Yeung, Alison, additional, Yntema, Helger G., additional, Study, DDD, additional, Vissers, Lisenka E. L. M., additional, Juusola, Jane, additional, Wright, Caroline F., additional, Brunner, Han G., additional, Firth, Helen V., additional, FitzPatrick, David R., additional, Barrett, Jeffrey C., additional, Hurles, Matthew E., additional, Gilissen, Christian, additional, and Retterer, Kyle, additional

Published
2018
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12. Assessment of Mutation Status in a Large Series of Patients with Cytopenias with Normal Karyotypes and without Increased Blasts

Author

Lee, Lobin A, primary, Wang, Yongbao, additional, Maiese, Russell, additional, Arvai, Kevin J, additional, Pan, Qiulu, additional, Mehta, Kumudini, additional, Caruthers, Sean M, additional, Gersen, Steven L, additional, Billouin-Frazier, Shere, additional, Racke, Frederick Karl, additional, and Jones, Dan, additional

Published
2014
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