Wow! Amazing to hear the updates on the #T2T human genome assembly! Sequence for the acrocentric chromosomes, 5 new chr arms encompassing 66.1 Mb of sequence & 1,561 genes #ASHG21
@aphillippy: Planning to maintain GRCh38 and CHM13 as parallel assemblies. Will build up resources for CHM13 but cannot throw away hg38. If interested in 8% extra genomic sequencing should align and assemble using CHM13. Goal to do #T2T Pangenome. #ASHG21
Nicolas Altemose: 2021 not only anniversary of the human genome reference but 60th anniversary of satellite DNA. #ASHG21
NA: When looking at satellite sequence, the farther you move from the centromere the more variation & divergence found supporting a model where new sequence is added in the center of the centromere & old seq is pushed to the sides accumulating deletions & decays over time #ASHG21
Mitchell Vollger: A lot more sequence that represents segmental duplications in #T2T CHM13, mainly located in short arms of acrocentric chromosomes. Confirmed new SDs in acrocentric regions by FISH. Many new genes in CHM13 overlapping SDs. #ASHG21
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