Today is a big day. One that was 30+ years in the making. We have finally uncovered every last bit of the human genome! I wanted to celebrate by writing a behind the scenes tribute to the amazing members of the T2T consortium, but that will have to wait. The past two years have been a whirlwind and I need some time to recuperate. For now, just the basics: links to the assembly, the browser, and the papers. And don’t worry, we didn’t forget chrY this time!

Summary

The T2T-CHM13v2.0 release includes complete assemblies for all 24 human chromosomes. Chromosomes 1-22 and X are from the CHM13hTERT cell line and chromosome Y is from NIST HG002 (aka PGP huAA53E0). The CHM13 chromosomes are described in the below linked publications, and we expect to release a preprint on the HG002 chrY within the coming month. This data is released into the public domain without restriction. We politely request that you cite Nurk et al. “The complete sequence of a human genome” for its use.

Science special issue “Completing the human genome”

T2T companion papers at Science, Nature Methods, and Genome Research

UCSC Genome Browser (chm13)

NCBI GenBank Record (GCA_009914755.4)

Ancillary data (GitHub)

Analysis Sets

In addition to the NCBI assembly record, we are providing the following FASTA files for convenience.

chm13v2.0.fa.gz
CHM13v2.0 reference with repeats soft-masked and sequence names converted to the UCSC style

chm13v2.0_noY.fa.gz
CHM13v2.0 excluding the Y chromosome

chm13v2.0_maskedY.fa.gz
CHM13v2.0 with the Y pseudoautosomal region (PAR) hard masked with Ns

chm13v2.0_maskedY_rCRS.fa.gz
CHM13v2.0 with the Y pseudoautosomal region (PAR) hard masked with Ns and the CHM13 mitochondrial genome replaced with the rCRS reference

Acknowledgements

A huge thank you and congratulations to all the members of the T2T consortium! There are 100 co-authors of the assembly paper, and many more who have contributed to our understanding of the first complete human genome. I cannot show them all here, but hopefully this montage will give you a feel for the incredible team that made this dream a reality.