Chromosome-scale, haplotype-resolved assembly of human genomes

Garg, S; Fungtammasan, A; Carroll, A; Chou, M; Schmitt, A; Zhou, X; Mac, S; Peluso, P; Hatas, E; Ghurye, J; Maguire, J; Mahmoud, M; Cheng, HY; Heller, D; Zook, JM; Moemke, T; Marschall, T; Sedlazeck, FJ; Aach, J; Chin, CS; Church, GM; Li, H

Garg, S; Church, GM (corresponding author), Harvard Med Sch, Dept Genet, Boston, MA 02115 USA.; Garg, S; Li, H (corresponding author), Dana Farber Canc Inst, Dept Data Sci, Boston, MA 02115 USA.; Garg, S; Li, H (corresponding author), Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA.; Chin, CS (corresponding author), DNAnexus, Mountain View, CA USA.

NATURE BIOTECHNOLOGY, 2021; 39 (3): 309

Abstract

Haplotype-resolved or phased genome assembly provides a complete picture of genomes and their complex genetic variations. However, current algorithms ......

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