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Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patients

2021-12-21

Abstract excerpt

Cystic fibrosis (CF) is a severe genetic disorder that can cause multiple comorbidities affecting the lungs, the pancreas, the luminal digestive system and beyond. In our previous genome-wide association studies (GWAS), we genotyped ∼8,000 CF samples using a mixture of different genotyping platforms. More recently, the Cystic Fibrosis Genome Project (CFGP) performed deep (∼30x) whole genome sequencing (WGS) of 5,...

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Literature Corpus work: 7a44dd2a-6f7f-5fa5-bee0-4aecbdba1d03
DOI: 10.1101/2021.12.20.473535

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