Matt Holt
@holtjma
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Staff scientist at @PacBio; formerly @hudsonalpha; avid gamer; opinions are my own; @[email protected], @holtjma.bsky.social
Joined December 2009
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”:
academic.oup.com
AbstractMotivation. In diploid organisms, phasing is the problem of assigning the alleles at heterozygous variants to one of two haplotypes. Reads from Pac
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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.
biorxiv.org
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Phar-macogenomic diplotyping of complex genes requires full-length DNA sequences and detection of struct...
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Plant genome sequence assembly in the era of long reads: Progress, challenges and future directions https://t.co/lOg31JJde1 StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data https://t.co/8wDt2FTxc9
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StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data https://t.co/sSl4HQLZWc
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I've been informed the DOI link is not working yet, here's the direct bioRxiv link in the interim: https://t.co/uZSfGaWrTG
biorxiv.org
Pharmacogenomics is central to precision medicine, informing medication safety and efficacy. Phar-macogenomic diplotyping of complex genes requires full-length DNA sequences and detection of struct...
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Pre-print: https://t.co/p9LMV1jwk0 Repo: https://t.co/HKNHEPEtcG Longer thread where I now encourage posting:
github.com
A phase-aware pharmacogenomic diplotyper for PacBio datasets - PacificBiosciences/pb-StarPhase
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“StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data” is now available online! In this work, we explore the use of long-read sequencing (#PacBio #HiFi) for #pharmacogenomics #PGx. 1/2
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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! https://t.co/yvq8AHp3vn
#medicalgenetics #medicaleducation #geneticcounseling
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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! https://t.co/0rAR1OcChc
Final #ASHG24 poster session is starting now, come say hi if you’re interested in long read PGx, poster 7021!
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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
https://t.co/4ZvZwNGBK4
cell.com
We developed Paraphase, an informatics method that, combined with highly accurate long reads, can resolve the highly homologous SMN1/SMN2 genes involved in spinal muscular atrophy. We characterized...
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If you're interested in trying the Paraphase tool for your #PacBio HiFi data, see the GitHub repo: https://t.co/EcO6ykFmrK
#ASHG24
github.com
HiFi-based caller for highly similar paralogous genes - PacificBiosciences/paraphase
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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. https://t.co/RYJdUCq8SA
pacb.com
Priced at just $169,000 Vega is designed to make highly accurate long-read sequencing accessible to any laboratory Translations: Japanese | Chinese | Korean MENLO PARK, Calif., Nov. 06, 2024...
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✨It's here! Introducing Vega - the first benchtop long-read #sequencing system from #PacBio. With #Vega, industry-leading HiFi tech is now within reach. We could go on about why it's so remarkable, but Vega's impact speaks for itself. Learn more here: https://t.co/KRd8AyX77E
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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 https://t.co/6jWSeBlO2t
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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. https://t.co/QXzw586AOk
genengnews.com
PacBio launches the Vega System: a new sequencing platform that brings the company's HiFi sequencing technology to the benchtop.
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