The #T2T Consortium is excited to release a series of preprints in the coming weeks that describe the assembly and analysis of the first truly complete human genome! 🎉 I will append the papers as they appear to this 🧵, and you can find all our data here: github.com/marbl/CHM13
First things first, a massive high five to my #T2T co-chairs @khmiga and Evan Eichler who shared this vision with me from the start and from whom I've learned so much, as well as the entire #T2T team 🙌 I can't imagine a better group of people! Sorry I can't fit everyone!
"The complete sequence of a human genome" led by @sergeynurk @sergekoren @ArangRhie @MikkoRautiaine3 describes the assembly and initial analysis. We have revealed ~200 Mbp of new sequence, thousands of potentially new genes, and 5 full chromosome arms! biorxiv.org/cgi/content/sh…
"Segmental duplications and their variation in a complete human genome" led by @mrvollger identifies double the number of previously known near-identical SD alignments, revealing massive evolutionary differences in SD organization between humans and apes. biorxiv.org/content/10.110…
"Epigenetic patterns in a complete human genome" led by @GershmanAriel profiles the epigenetic landscape of the entire genome and uncovers novel methylation patterns, including a hypomethylated and highly dense chromatin region within the centromere. biorxiv.org/content/10.110…
There will be more to come! In the meantime, please enjoy our UCSC Assembly Hub @GenomeBrowser including comprehensive annotation and experimental tracks from all of our companion studies: genome.ucsc.edu/cgi-bin/hgTrac…
As well as this cool interactive visualization of all the newly discovered genomic repeats from @mrvollger and @pkerpedjiev 🔍 resgen.io/paper-data/T2T…
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