Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

Recent genome-wide studies of rare genetic variants have begun to implicate novel mechanisms for tetralogy of Fallot (TOF), a severe congenital heart defect (CHD). To provide statistical support for case-only data without parental genomes, we re-analyzed genome sequences of 231 individuals with TOF...

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Detalles Bibliográficos
Autores principales: Manshaei, Roozbeh, Merico, Daniele, Reuter, Miriam S., Engchuan, Worrawat, Mojarad, Bahareh A., Chaturvedi, Rajiv, Heung, Tracy, Pellecchia, Giovanna, Zarrei, Mehdi, Nalpathamkalam, Thomas, Khan, Reem, Okello, John B. A., Liston, Eriskay, Curtis, Meredith, Yuen, Ryan K. C., Marshall, Christian R., Jobling, Rebekah K., Oechslin, Erwin, Wald, Rachel M., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7522597/
https://www.ncbi.nlm.nih.gov/pubmed/33110418
http://dx.doi.org/10.3389/fgene.2020.00957

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