Matt Holt Profile
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
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@holtjma
Matt Holt
2 years
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”:
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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
@holtjma
Matt Holt
2 years
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:
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@PacBio
PacBio
11 months
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.
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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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@ResearchGenome
GenomeResearch
11 months
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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@razoralign
antisense.
11 months
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing Data https://t.co/sSl4HQLZWc
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@holtjma
Matt Holt
11 months
“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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@TheACMG
ACMG
1 year
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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@holtjma
Matt Holt
1 year
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
@holtjma
Matt Holt
1 year
Final #ASHG24 poster session is starting now, come say hi if you’re interested in long read PGx, poster 7021!
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@holtjma
Matt Holt
1 year
Final #ASHG24 poster session is starting now, come say hi if you’re interested in long read PGx, poster 7021!
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@holtjma
Matt Holt
1 year
If you're interested in trying the Paraphase tool for your #PacBio HiFi data, see the GitHub repo: https://t.co/EcO6ykFmrK #ASHG24
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github.com
HiFi-based caller for highly similar paralogous genes - PacificBiosciences/paraphase
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@holtjma
Matt Holt
1 year
It’s a packed room for Xiao Chen’s talk on resolving paralogous genes with #PacBio HiFi sequencing! #ASHG24
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@holtjma
Matt Holt
1 year
Of course I forgot to post the number…🤦 7021! #ASHG24
@holtjma
Matt Holt
1 year
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!
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@holtjma
Matt Holt
1 year
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!
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@DPortik
Daniel Portik
1 year
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
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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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@donalmurphy
donalmurphy
1 year
Vega is here! Stop by the @PacBio booth. #PacBio #ASHG24
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@PacBio
PacBio
1 year
✨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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@hdashnow
Dr Harriet Dashnow
1 year
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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@GENbio
Genetic Engineering & Biotechnology News
1 year
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
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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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@holtjma
Matt Holt
1 year
One Republic putting on quite a show for us! #ASHG24 #PacBio
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