Soifer, Ilya L. Fong, Nicole Yi, Nelda Ireland, Andrea T. Lam, Irene Sooknah, Matthew Paw, Jonathan S. Peluso, Paul Concepcion, Gregory T. Rank, David Hastie, Alex R. Jojic, Vladimir Ruby, J. Graham Botstein, David Roy, Margaret A. Supplemental Material for Soifer et al., 2020 <p>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 <i>de novo </i>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.</p> Haplotype;Phased genome;Phased sequencing;Chromosome sorting;Human genome;Genomics 2020-07-06
    https://gsajournals.figshare.com/articles/dataset/Supplemental_Material_for_Soifer_et_al_2020/12279338
10.25387/g3.12279338.v1