Improving imputation in disease-relevant regions: lessons from cystic fibrosis

Does genotype imputation with public reference panels identify variants contributing to disease? Genotype imputation using the 1000 Genomes Project (1KG; 2504 individuals) displayed poor coverage at the causal cystic fibrosis (CF) transmembrane conductance regulator (CFTR) locus for the Internationa...

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Dades bibliogràfiques
Publicat a:NPJ Genom Med
Autors principals: Panjwani, Naim, Xiao, Bowei, Xu, Lizhen, Gong, Jiafen, Keenan, Katherine, Lin, Fan, He, Gengming, Baskurt, Zeynep, Kim, Sangook, Zhang, Lin, Esmaeili, Mohsen, Blackman, Scott, Scherer, Stephen W., Corvol, Harriet, Drumm, Mitchell, Knowles, Michael, Cutting, Garry, Rommens, Johanna M., Sun, Lei, Strug, Lisa J.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Brief Communication
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5861096/
https://ncbi.nlm.nih.gov/pubmed/29581887
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0047-6
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