Authors
Zev N Kronenberg, Arang Rhie, Sergey Koren, Gregory T Concepcion, Paul Peluso, Katherine M Munson, David Porubsky, Kristen Kuhn, Kathryn A Mueller, Wai Yee Low, Stefan Hiendleder, Olivier Fedrigo, Ivan Liachko, Richard J Hall, Adam M Phillippy, Evan E Eichler, John L Williams, Timothy PL Smith, Erich D Jarvis, Shawn T Sullivan, Sarah B Kingan
Publication date
2021/4/28
Journal
Nature Communications
Volume
12
Issue
1
Pages
1935
Publisher
Nature Publishing Group UK
Description
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 situations. To address this issue, we present FALCON-Phase, a phasing tool that uses ultra-long-range Hi-C chromatin interaction data to extend phase blocks of partially-phased diploid assembles to chromosome or scaffold scale. FALCON-Phase uses the inherent phasing information in Hi-C reads, skipping variant calling, and reduces the computational complexity of phasing. Our method is validated on three benchmark datasets generated as part of the Vertebrate Genomes Project (VGP …
Total citations
202020212022202320241115383219
Scholar articles
ZN Kronenberg, A Rhie, S Koren, GT Concepcion… - Nature Communications, 2021