Article
Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C.
Nature communications - 28 Apr 2021
Kronenberg Zev N, Rhie Arang, Koren Sergey, Concepcion Gregory T, Peluso Paul, Munson Katherine M, Porubsky David, Kuhn Kristen, Mueller Kathryn A, Low Wai Yee, Hiendleder Stefan, Fedrigo Olivier, Liachko Ivan, Hall Richard J, Phillippy Adam M, Eichler Evan E, Williams John L, Smith Timothy P L, Jarvis Erich D, Sullivan Shawn T, Kingan Sarah B
Abstract excerpt
Haplotype-resolved genome assemblies are important for understanding how combinations of variants impact phenotypes. To date, these assemblies have been best created with complex protocols, such as cultured cells that contain a single-haplotype (haploid) genome, single cells where haplotypes are separated, or co-sequencing of parental genomes in a trio-based approach. These approaches are impractical in most...
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