Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patientscystic fibrosisgenotype imputationmendelian diseasepolygenic risk scoreCystic fibrosis (CF) is a severe genetic disorder that can cause multiple ...
The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes)1. In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion ...
This analysis benefits from the availability of whole-genome sequencing data provided by the TOPMed Program of the NHLBI’s Precision Medicine Initiative10,32. Previous studies have been limited by reliance on imputation or minimal sample sizes for data with sequencing paired with glycemic phenotypes. ...
Leveraging TOPMed Imputation Server and Constructing a Cohort-Specific Imputation Reference Panel to Enhance Genotype Imputation among Cystic Fibrosis Patientsdoi:10.1016/j.xhgg.2022.100090Quan SunWeifang LiuJonathan D. RosenLe HuangR. PaceH. Dang
The resources include a variant browser, a genotype imputation server, and genomic and phenotypic data that are available through dbGaP (Database of Genotypes and Phenotypes) . In the first 53,831 TOPMed samples, we detected more than 400 million single-nucleotide and insertion or deletion ...