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Another #Review highlight: Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications go.nature.com/43eV9jM by @IndhuShreeRB, Egor Dolzhenko, Mike Eberle & Jan M. Friedman University of British Columbia BC Children's Hospital Research Institute PacBio

🚀Exciting Opportunity at PacBio!🧬 Passionate about genomics and cutting-edge technology? PacBio is seeking a Senior Staff Engineer (C++/CUDA) in Menlo Park, CA! Ready to revolutionize DNA sequencing? Apply now! pacbio.wd12.myworkdayjobs.com/en-US/PacBio-/… #Genomics #CUDA #BFX #PacBio #Jobs

Towards truly unified genomic diagnostics: HiFi long-read genomes for difficult-to-detect clinically relevant variants | medRxiv ⁦Alexander Hoischen⁩ medrxiv.org/content/10.110…

Tandem repeat catalogs directly affect the sensitivity, cost, and accuracy of TR genotyping studies. In this paper, we discuss TR catalogs and share a new catalog of 4.9 million loci biorxiv.org/content/10.110…

We're recruiting! Join our lab at Baylor College of Medicine to explore the functional role of repetitive DNA, the final frontier of the human genome. We work on rare neurodegenerative diseases and cancer. Postdoc and tech positions available. ErwinLab.org 1/7

We've been making steady usability updates to the sawfish SV caller thanks to user feedback, including a new feature to output all supporting reads for each SV. The latest binary, user guide, and (new) source code release are available on github here: github.com/PacificBioscie…

Don’t miss our #ASHG24 platform talk on genome-wide profiling of highly similar paralogous genes using #HiFisequencing. Learn how this powerful approach is helping unravel complex regions of the genome. Details: bit.ly/3XZLVpt #PacBio #Genomics

I'm happy to announce that SVTopo, a new computational tool from PacBio (github.com/PacificBioscie…), is ready for you to try. SVTopo creates simple images so you can rapidly understand complex changes in genome structure. See me and learn more at ASHG 2024 in Denver, poster 1180W

NEW: Learn how the new SPRQ chemistry for #Revio is improving long-read #sequencing performance and affordability like never before: bit.ly/3Y0Ds6Z #PacBio #ASHG24

There are plenty of opportunities to make calls this weekend. It's time. Any questions for how? dm. Repost so twitter algo sends out.

Enjoying all the tandem repeat fun at #ASHG24? The Dashnow lab is hiring software developer/data analyst roles. Apply by Nov 13 for best consideration dashnowlab.org

Deaminase-assisted Fiber-seq (DAF-seq) has arrived! DAF-seq is an amplification-compatible version of #Fiberseq that resolves genetic and chromatin architectures with single-nucleotide, single-molecule, single-haplotype, and single-cell precision. biorxiv.org/content/10.110…

My poster on long read pharmacogenomics with #PacBio HiFi is up for today at #ASHG24. Ping me on here if you want to meet before the poster session!

Xiao talking now about using Paraphase and HiFi data to resolve segmental duplications genome wide

It’s a packed room for Xiao Chen’s talk on resolving paralogous genes with #PacBio HiFi sequencing! #ASHG24

Great talk by Xiao Chen about application of Paraphase in Four Seasons 4. Learn more about the method in last year’s AJHG paper #ASHG24 cell.com/ajhg/fulltext/…

Great presentation by Joe Devaney from GeneDx #ASHG2024 #ASHG24. Long-read genome sequencing are almost ready for prime time! Exciting times ahead!!

Just back from #ashg24 - new record by an automated library prep for a Revio SMRT cell: 8.1 M reads; 133.0 Gb; 16.4 kb avg size; Q34. …and this is before upgrade to SPRQ! Great lab team Human Genetics Nijmegen, Radboudumc Radboudumc! #RevioOlympics

If you missed this poster session at #ASHG24, you can now view the poster online! Happy to have a chat if you're interested in long-read PGx with #PacBio! pacb.com/wp-content/upl…

A great resource: tandem repeat database in ⁦AllofUsResearch⁩ with the expert input of ⁦PacBio⁩ ⁦Mike Eberle⁩ ⁦Egor Dolzhenko⁩ search.app/zkzCsN5Yx7Frwj…