HIGH-QUALITY READ-BASED PHASING OF CYSTIC FIBROSIS COHORT INFORMS GENETIC UNDERSTANDING OF DISEASE MODIFICATION

High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification

Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation.We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.39 Mb.We use these samples to construct a graph representation of CFTR haplotypes, demonstrating its u

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Variotherm assisted precision injection molding of plastic optical lenses based on improved cooling stage control model

Abstract Precision injection-molded plastic optical lenses are extensively utilized in imaging optical systems.The residual stress and surface deformation produced during the injection molding of plastic optical lenses will immediately result in impairments in imaging quality.Conventional injection Grooming Kits molding enhances molding quality by

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