Delighted to finally announce a preprint describing the Q100 project! “A complete diploid human genome benchmark for personalized genomics” For which we finished HG002 to near-perfect accuracy: www.biorxiv.org/content/10.1... 🧵[1/14]

Our paper about extensive genomic data for a new broadly-consented pancreatic cancer cell line and matched normal tissue is now published at doi.org/10.1038/s415...! Stay tuned for draft GIAB benchmarks for somatic variants, and assemblies from these data coming soon! 1/2

Pssst 🤫... you can also try this live with @genomeinabottle.bsky.social data here: resgen.io/paper-data/Z...

Our first curated draft somatic structural variant benchmark for the new GIAB PDAC tumor cell line HG008-T is at ftp-trace.ncbi.nlm.nih.gov/ReferenceSam..., based on extensive short+long read sequencing data described in doi.org/10.1101/2024.... Feedback to improve future versions is very welcome!

ModDotPlot preprint is now out! Winner of best poster at RECOMB 2023, it can generate either static or interactive dotplots in minutes using hierarchical modimizers. With @alexsweeten.bsky.social and @mikeschatz.bsky.social Preprint: www.biorxiv.org/content/10.1... Code: github.com/marbl/ModDot...

Tandem repeats are hard! Get your benchmark from @genomeinabottle.bsky.social to compare caller : biorxiv.org/content/10.1... 1.7 mil TR catalog; new tooling to overcome variant representation issues (SNV &SV); insight in complexity. First time we can compare across different techs/caller!

New work from our group; curated long-read assemblies of the complex human IG kappa locus (with @williamlees.bsky.social; vdjbase.org): www.biorxiv.org/content/10.1...

We are excited to release several new GIAB products in advance of #ASHG23, including v1.0 TR and X&Y benchmarks, corrected GRCh38 reference, stratifications for T2T-CHM13, RNA-seq, GIAB tumor/normal data, and a v1.0 T2T-HG002 assembly with #T2T. Details at www.nist.gov/programs-pro...