The End of the Beginning of Human Genome Sequencing?

Today inScience a slew of papers have been published from the Telomere-to-Telomere (T2T) Consortium.  The flagship paper details the generation of a complete genome assembly from a Complete Hydatiform Mole (CHM) cell line which is telomere-to-telomere for all 22 autosomes plus X (assembly T2T-CHM13); the compani on papers apply this groundbreaking assembly to a number of biological questions.  PacBio CSO Jonas Korlach and I chatted yesterday about the PacBio contribution to the flagship as well as two of the other papers, as well as another T2Tpreprint on automated assembly anda related paper from Heng Li and colleagues that recently appeared in Nature Biotechnology.   I did not have advance access to the T2T paper but ithad appeared in preprint formand Jonas assured me that no substantial information was added in the published version.  Read more »
Source: Omics! Omics! - Category: Bioinformatics Authors: Source Type: blogs