Diploid genome assembly of human fibroblast cell lines enables clone specific variant calling, improved read mapping and accurate phasing

Abstract excerpt

Human cell lines are fundamental tools in biomedical research and are widely used in disease modeling, drug development, and many other domains. Here, we present chromosome-level, phased diploid genome assemblies of two popular human cell lines: the BJ foreskin fibroblast line and the IMR-90 fetal lung fibroblast line. Our high-quality assemblies, generated using long-read and Hi-C sequencing data, reveal substant...

Topics

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• Algorithms
• Chromosomes, Human
• Diploidy
• Genome, Human
• Haplotypes
• Heterozygote
• High-Throughput Nucleotide Sequencing
• Polymorphism, Single Nucleotide

Identifiers and source

Literature Corpus work

b4f29ef8-173f-523c-a024-00259d415bab

DOI

10.1101/2025.04.15.648829