<![CDATA[BOL: Related items]]> https://bioinformaticsonline.com/related/40611?offset=540 https://bioinformaticsonline.com/bookmarks/view/23253/resolving-the-complexity-of-the-human-genome-using-single-molecule-sequencing Sat, 11 Jul 2015 12:47:34 -0500 https://bioinformaticsonline.com/bookmarks/view/23253/resolving-the-complexity-of-the-human-genome-using-single-molecule-sequencing <![CDATA[Resolving the complexity of the human genome using single-molecule sequencing]]> The human genome is arguably the most complete mammalian reference assembly yet more than 160 euchromatic gaps remain and aspects of its structural variation remain poorly understood ten years after its completion. The results in this paper https://www.genomeweb.com/sequencing/team-uses-single-molecule-sequencing-close-gaps-chart-complexity-human-reference suggest a greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology.

 

Address of the bookmark: http://www.nature.com/nature/journal/v517/n7536/full/nature13907.html

]]> Rahul Agarwal https://bioinformaticsonline.com/bookmarks/view/41501/hicanu-accurate-assembly-of-segmental-duplications-satellites-and-allelic-variants-from-high-fidelity-long-reads Fri, 27 Mar 2020 22:49:31 -0500 https://bioinformaticsonline.com/bookmarks/view/41501/hicanu-accurate-assembly-of-segmental-duplications-satellites-and-allelic-variants-from-high-fidelity-long-reads <![CDATA[HiCanu: accurate assembly of segmental duplications, satellites, and allelic variants from high-fidelity long reads]]> HiCanu, a significant modification of the Canu assembler designed to leverage the full potential of HiFi reads via homopolymer compression, overlap-based error correction, and aggressive false overlap filtering. 

More at https://www.biorxiv.org/content/10.1101/2020.03.14.992248v3

Address of the bookmark: https://github.com/marbl/canu

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