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Diverse Applications For Gene Sequencing in Disease Research


In late March of 2022, Science published the latest human reference genome, T2T-CHM13, completing the 8% of the human genome that remained unfinished. As reported by Nurk et al., the Telomere-to-Telomere (T2T) Consortium used haplotype long read-length sequencing methods to provide gapless telomere-to-telomere assemblies for all chromosomes except Y, correct errors in previous versions, add 182 Mbp of new sequence that did not align to the previous version (CRCh38), and provide a 16,569-bp mitochondrial genome. T2T-CHM13 is a landmark achievement that unlocks some of the most structurally complex regions of the human genome, providing a firmer foundation for human disease research.

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