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