Frozen HG008 assemblies and no GIAB call today

[Zook, Justin M. (Fed)]

Dear GIAB Analysis Team,

We cancelled the GIAB call today due to the holidays, so we’ll likely have our next call at 1pm EST on Jan 5.

A couple updates from our team:

1. We’re excited for the publication of our paper about subclonal variants down to ~5% VAF in HG002 in collaboration with MDIC at https://doi.org/10.1016/j.xgen.2025.101104. In addition to the mosaic variants we confirmed, this enables use of our NIST Reference Material DNA to identify false positive mosaic calls down to ~5%.
2. As we are working towards a manuscript about the HG008 tumor/normal benchmarks and assemblies, we have frozen versions of the tumor and normal assemblies below. Let us know if you find any issues with them!

HG008-N v6.3 normal assembly:

Combined haplotypess:

https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008N_v6.3/HG008N_v6.3.fasta.gz 

Separate haplotypess:

https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008N_v6.3/HG008N_v6.3_hap1.fasta.gz 

https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008N_v6.3/HG008N_v6.3_hap2.fasta.gz 

HG008-T v3.2 tumor assembly:

Combined haplotypes:
https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008T_v3.2/HG008T_v3.2.fasta.gz

Haplotype-separated fastas that match the normal haplotypes (except for the end of chr19 that has a haplotype switch in the tumor):
https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008T_v3.2/HG008T_v3.2.hap1.fasta.gz
https://nist-giab.s3.us-east-1.amazonaws.com/giab_tumor-normal/analysis/HG008/NIST_asm_dev/HG008T_v3.2/HG008T_v3.2.hap2.fasta.gz

Thanks to all who contributed to these, and enjoy your holidays!

Justin