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Excited to announce that our accompanying paper on HiPhase has been published today, I'll highlight some of the additions in this thread! #PacBio #HiFi
“HiPhase: Jointly phasing small, structural, and tandem repeat variants from HiFi sequencing”: doi.org/10.1093/bioinformati…
I'm pleased to announce the release of HiPhase v1.0.0! In addition to phasing small and structural variants from #PacBio #HiFi datasets, HiPhase now also includes support for phasing short tandem repeats (#STR) at the same time!
Full release notes: github.com/PacificBioscience…
Matt Holt retweeted
Phase-aware star allele calling for #pharmacogenomics: The new StarPhase tool from #PacBio leverages direct phasing by #HiFisequencing to enable accurate star (*) allele diplotyping of #CPIC pharmacogenes. bit.ly/4iHZGCK
Matt Holt retweeted
Plant genome sequence assembly in the era of long reads: Progress, challenges and future directions
doi.org/10.1017/qpb.2021.18
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data
doi.org/10.1101/2024.12.10.6…
Matt Holt retweeted
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data biorxiv.org/content/10.1101/…
Pre-print: doi.org/10.1101/2024.12.10.6…
Repo: github.com/PacificBioscience…
Longer thread where I now encourage posting: bsky.app/profile/holtjma.bsk…
I've been informed the DOI link is not working yet, here's the direct bioRxiv link in the interim:
biorxiv.org/content/10.1101/…
Matt Holt retweeted
Abstract submission for #ACMGMtg25 closes in three days! Don’t miss the chance to present your work as a poster or platform presentation. Deadline: November 15, 2024. Share your knowledge with peers! bit.ly/AM25abs #medicalgenetics #medicaleducation #geneticcounseling
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/uploads/…
Final #ASHG24 poster session is starting now, come say hi if you’re interested in long read PGx, poster 7021!
Matt Holt retweeted
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/S0002…
If you're interested in trying the Paraphase tool for your #PacBio HiFi data, see the GitHub repo:
github.com/PacificBioscience…
#ASHG24
Matt Holt retweeted
It's official, @PacBio has launched a new benchtop sequencer!
Quick summary of the new Vega system:
- instrument = $169k
- consumables = $1100 per run
- output = 60 Gbp, 24 hr run time
This is the #HiFi sequencer #microbiology labs have been asking for.
pacb.com/press_releases/pacb…
Matt Holt retweeted
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/
Matt Holt retweeted
If #ASHG attendees can count on one thing lately, it’s @PacBio creating a buzz (and throwing a great party). This year was no exception!
When PacBio launched their latest instrument, Vega, on Wednesday night, @OneRepublic was on site to help them do it.
hubs.li/Q02Xhqyc0
