Finishing a complete giraffe genome from telomere to telomere with Verkko-Fillet

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Authors: Juhyun Kim, Benjamin D. Rosen, Sarah E Fumagalli, Kristen L. Kuhn, Amy Long, Jeffrey J. Schoenebeck, Heather Schwartz, Lan Wu‐Cavener, Aleksey V. Zimin, Douglas R. Cavener, Timothy P. L. Smith, Adam M. Phillippy
+2 more Sergey Koren, Arang Rhie
Cited by: 2
References: 69

Abstract

High-quality reference genomes are critical for studying the biology of the genome, but current methods often leave gaps and errors, especially in repetitive regions. These issues arise from challenges in genome graph curation and are not fully resolvable by standard polishing approaches. To address this, we developed Verkko-Fillet, a Python-based interactive framework for inspecting, editing, and refining genome assembly graphs. It integrates multiple data sources and provides tools for visualization, gap filling, and structural correction. Applied to a giraffe and the benchmark human genome, Verkko-Fillet improves a draft assembly (Q61.5) to a complete telomere-to-telomere genome (Q73.6), increasing both contiguity and accuracy. This work highlights the importance of graph-based curation for producing a finished, gapless genome assembly suitable for downstream analyses.

Fields of Study & Subjects

Chromosomal and Genetic Variations Telomeres Telomerase and Senescence Mitochondrial Function and Pathology

Publication details

Journal / source
Cell Genomics
Publisher
Elsevier BV
Volume
6
Issue
8
Pages
101279–101279
Publication date
1 August 2026
Language
EN