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Genome in a Bottle Consortium @genomeinabottle.bsky.social · 06/05/2026

Excited to announce we’ve constructed a complete, haplotype-resolved assembly of a human pancreatic cancer genome. By comparing tumor cell line and normal tissue assemblies directly, we developed phased somatic benchmarks. Thanks to many in GIAB! www.biorxiv.org/content/10.6...

biorxiv.org

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Reposted by Genome in a Bottle Consortium

Adam Phillippy @aphillippy.bsky.social · 22/09/2025

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]

biorxiv.org

A complete diploid human genome benchmark for personalized genomics

Human genome resequencing typically involves mapping reads to a reference genome to call variants; however, this approach suffers from both technical and reference biases, leaving many duplicated and ...

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Genome in a Bottle Consortium @genomeinabottle.bsky.social · 21/07/2025

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

doi.org

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair - Scientific Data

Scientific Data - Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

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Reposted by Genome in a Bottle Consortium

resgen.io @resgen-io.bsky.social · 04/02/2025

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

resgen.io

Reservoir Genome Browser - Sort by base demo

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Genome in a Bottle Consortium @genomeinabottle.bsky.social · 20/12/2024

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!

ftp-trace.ncbi.nlm.nih.gov

Index of /ReferenceSamples/giab/data_somatic/HG008/Liss_lab/analysis/NIST_HG008-T_somatic-stvar_DraftBenchmark_V0.1-20241219

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Reposted by Genome in a Bottle Consortium

Adam Phillippy @aphillippy.bsky.social · 22/04/2024

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...

media.giphy.com

Animated GIF - Find & Share on GIPHY

Discover & share this Animated GIF with everyone you know. GIPHY is how you search, share, discover, and create GIFs.

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Reposted by Genome in a Bottle Consortium

Fritz Sedlazeck @sedlazeck.bsky.social · 06/11/2023

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!

Fig 3 from our preprint to highlight new benchmark approach capable of overcoming allele representation issues etc.

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Reposted by Genome in a Bottle Consortium

Corey Watson @cdubsig.bsky.social · 01/11/2023

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...

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Genome in a Bottle Consortium @genomeinabottle.bsky.social · 01/11/2023

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...

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