Telomere-to-telomere (T2T) assembly is the ultimate goal for de novo genome assembly. Existing algorithms capable of near T2T assembly all require Oxford Nanopore Technologies (ONT) ultra-long reads w...

Complex structural variations and rearrangements in cancer are identified using long-read sequencing.

Abstract. Despite many improvements over the years, the annotation of the human genome remains imperfect. The use of evolutionarily conserved sequences pro

Rhesus macaques (RMs) are a vital model for studying human disease and invaluable to pre-clinical vaccine research, particularly for the study of broadly neutralizing antibody responses. Such studies ...

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Background Long reads have gained popularity in the analysis of metagenomics data. Therefore, we comprehensively assessed metagenomics classification tools on the species taxonomic level. We analysed ...

A complete diploid human genome. Contribute to marbl/HG002 development by creating an account on GitHub.

A tool for somatic structural variant calling using long reads - GitHub - KolmogorovLab/Severus: A tool for somatic structural variant calling using long reads

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This work introduces a wet lab and computational pipeline, Napu, for small variant calling and de novo assembly of Nanopore sequencing data, which leads to comparable performances to short-read sequen...