Supplemental Material for Soifer et al., 2020
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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.
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GSA Journals创建时间：
2020-07-06
