Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

Although de novo mutations (DNMs) are known to increase an individual’s risk of congenital defects, DNMs have not been fully explored regarding orofacial clefts (OFCs), one of the most common human birth defects. Therefore, whole-genome sequencing of 756 child-parent trios of European, Colombian, an...

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Publicado no:Am J Hum Genet
Main Authors: Bishop, Madison R., Diaz Perez, Kimberly K., Sun, Miranda, Ho, Samantha, Chopra, Pankaj, Mukhopadhyay, Nandita, Hetmanski, Jacqueline B., Taub, Margaret A., Moreno-Uribe, Lina M., Valencia-Ramirez, Luz Consuelo, Restrepo Muñeton, Claudia P., Wehby, George, Hecht, Jacqueline T., Deleyiannis, Frederic, Weinberg, Seth M., Wu-Chou, Yah Huei, Chen, Philip K., Brand, Harrison, Epstein, Michael P., Ruczinski, Ingo, Murray, Jeffrey C., Beaty, Terri H., Feingold, Eleanor, Lipinski, Robert J., Cutler, David J., Marazita, Mary L., Leslie, Elizabeth J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332647/
https://ncbi.nlm.nih.gov/pubmed/32574564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.018
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