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New human genome version CHM13v2 uploaded

16:04 20 June 2022 in General News, Web Version
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We added the Homo sapiens genome version CHM13 from Telomere-to-telomere consortium (https://sites.google.com/ucsc.edu/t2tworkinggroup/). The new data set provides additional sequences missing from the GRCh38 genome project. The authors claim that their technology allowed the addition of 200 Mbp of new sequences.

The new assembly comes with three gene annotation tracks: Ensembl, CAT, and Gnomon (NCBI). Using the “instant BLAST” feature of Persephone, it is easy to visualize the sequence differences between the two versions (the blue ribbons show the sequence rearrangements). The illustration below shows a region of chromosome 9 from CHM13v2 (top panel) aligned to a similar region of chromosome 9 from GRCh38. As you can see in the picture, the sequence gap in the second map that has been presented as poly-N (dark blue block), has nicely sequenced base pairs in CHM13v2.