Arang Rhie

Sep 14, 2023 | nature.com | Mikhail Kolmogorov |Kimberley Billingsley |Mira Mastoras |Melissa Meredith |Ramita Dewan |Kensuke Daida | +13 more

AbstractLong-read sequencing technologies substantially overcome the limitations of short-reads but have not been considered as a feasible replacement for population-scale projects, being a combination of too expensive, not scalable enough or too error-prone. Here we develop an efficient and scalable wet lab and computational protocol, Napu, for Oxford Nanopore Technologies long-read sequencing that seeks to address those limitations.

Aug 23, 2023 | nature.com | Arang Rhie |Savannah Hoyt |Dylan Taylor |Nicolas Altemose |Paul W. Hook |Sergey Koren | +37 more

AbstractThe human Y chromosome has been notoriously difficult to sequence and assemble because of its complex repeat structure that includes long palindromes, tandem repeats and segmental duplications1,2,3. As a result, more than half of the Y chromosome is missing from the GRCh38 reference sequence and it remains the last human chromosome to be finished4,5.

May 10, 2023 | nature.com | Andrea Guarracino |Tamara A. Potapova |Arang Rhie |Sergey Koren |Jennifer L. Gerton |Adam M. Phillippy

AbstractThe short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share large homologous regions, including ribosomal DNA repeats and extended segmental duplications1,2. Although the resolution of these regions in the first complete assembly of a human genome—the Telomere-to-Telomere Consortium’s CHM13 assembly (T2T-CHM13)—provided a model of their homology3, it remained unclear whether these patterns were ancestral or maintained by ongoing recombination exchange.