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...
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 new draft V0.4 clonal/truncal somatic SV+CNV/CNA benchmark is at 42basepairs.com/browse/web/g.... Let us know if you have feedback to improve future versions!
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 ...
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...
