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Nature Communications|October 18, 2024
The GIAB genomic stratifications resource for human reference genomesNathan Dwarshuis, Divya Kalra, Jennifer McDaniel, et al.Nature Biotechnology|April 3, 2019
An open resource for accurately benchmarking small variant and reference callsJustin M Zook, Jennifer McDaniel, Nathan D Olson, et al.Biorxiv : the Preprint Server for Biology|November 14, 2023
Benchmarking of small and large variants across tandem repeatsAdam English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.Nature Biotechnology|April 26, 2024
Analysis and benchmarking of small and large genomic variants across tandem repeatsAdam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, et al.Nature Biotechnology|March 13, 2019
Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.Nature Biotechnology|March 23, 2019
Author Correction: Best practices for benchmarking germline small-variant calls in human genomesPeter Krusche, Len Trigg, Paul C Boutros, et al.Nature Biotechnology|December 8, 2020
Chromosome-scale, haplotype-resolved assembly of human genomesShilpa Garg, Arkarachai Fungtammasan, Andrew Carroll, et al.Science Translational Medicine|April 22, 2016
A research roadmap for next-generation sequencing informaticsRuss B Altman, Snehit Prabhu, Arend Sidow, et al.Nature Methods|April 1, 2022
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assembliesAnn M Mc Cartney, Kishwar Shafin, Michael Alonge, et al.Plos Computational Biology|June 20, 2020
A crowdsourced set of curated structural variants for the human genomeLesley M Chapman, Noah Spies, Patrick Pai, et al.Pageof 12