Article
Chromosome-scale, haplotype-resolved assembly of human genomes.
Nature biotechnology - 1 Mar 2021
Garg Shilpa, Fungtammasan Arkarachai, Carroll Andrew, Chou Mike, Schmitt Anthony, Zhou Xiang, Mac Stephen, Peluso Paul, Hatas Emily, Ghurye Jay, Maguire Jared, Mahmoud Medhat, Cheng Haoyu, Heller David, Zook Justin M, Moemke Tobias, Marschall Tobias, Sedlazeck Fritz J, Aach John, Chin Chen-Shan, Church George M, Li Heng
Abstract excerpt
Haplotype-resolved or phased genome assembly provides a complete picture of genomes and their complex genetic variations. However, current algorithms for phased assembly either do not generate chromosome-scale phasing or require pedigree information, which limits their application. We present a method named diploid assembly (DipAsm) that uses long, accurate reads and long-range conformation data for single...
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