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

De novo mutations (DNMs) in protein-coding genes are a well-established cause of developmental disorders (DD)(1). However, known DD-associated genes only account for a minority of the observed excess of such DNMs(1,2). To identify novel DD-associated genes, we integrated healthcare and research exom...

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Detalles Bibliográficos
Autores principales: 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, Retterer, Kyle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116826/
https://www.ncbi.nlm.nih.gov/pubmed/33057194
http://dx.doi.org/10.1038/s41586-020-2832-5

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