Supplemental Material for Soifer et al., 2020
Datasets usually provide raw data for analysis. This raw data often comes in spreadsheet form, but can be any collection of data, on which analysis can be performed.
Chromosomal phase information is invaluable for the understanding of phenotypic trait inheritance in the cases of compound heterozygosity, allele-specific expression or cis-acting variants. We used a combination of sequencing technologies and methods (PacBio long reads, 10X Genomics linked reads and Bionano Genomics optical mapping) to generate a de novo diploid assembly of the human primary cell line WI-38. The final genome assembly was almost fully (94%) phased with the addition of low coverage from sequenced metaphase chromosomes.