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Supplemental Material for Soifer et al., 2020

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posted on 2020-07-06, 15:47 authored by Ilya Soifer, Nicole L. Fong, Nelda Yi, Andrea T. Ireland, Irene Lam, Matthew Sooknah, Jonathan S. Paw, Paul Peluso, Gregory T. Concepcion, David Rank, Alex R. Hastie, Vladimir Jojic, J. Graham Ruby, David Botstein, Margaret A. Roy

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.


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Fully Phased Sequence of a Diploid Human Genome Determined de Novo from the DNA of a Single Individual

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