Riki Aydeniz
@AydenizRikiPoet. Work for @PacBio - my views are my own
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I’m a sucker for a good advert; the best part of going to the cinema is the trailers. youtu.be/kg-l7E6u3uw?fe…
Local assembly of @PacBio HiFi for exceptionally accurate structural variant detection. Work by @ctsa11 @holtjma @nothingclever @dnb_hopkins @MikeEberle software: github.com/PacificBioscie… Preprint: doi.org/10.1101/2024.0…
🚀🧬Our first long-read #HiFi human genomes have been sequenced in #Rouen, France! Blown away by the data quality and all-inclusive bioinformatics pipeline producing phased, methylation resolved data & a powerfull detection of all types of variants 🤯 @PacBio @GJRNicolas
Fortunate to attend and hear this plenary. Decent weather and food in Lisbon too! #PacBioPRISM
The first keynote speaker @ahoischen at #PacBioPRISM showing how #HiFireads are advancing rare disease genetic research
Register for our free 'Reviolution Day' event next week, with speakers from the Earlham Institute, @PacBio, and @TheQuadram discussing the latest applications of #HiFisequencing with the #Revio platform @DrKarimGharbi @Falk_tw @EI_single_cell 👉 okt.to/I09ipT
We are so excited to start exploring #longread sequencing of 10,000 Estonian genomes with @PacBio 🧬improved genotype imputation reference panel 🧬more precise #pharmacogenetics 🧬actionable genetic findings for #personalizedmedicine @ESTbiobank pacb.com/press_releases…
We're delighted to announce our collaboration with the Estonia National Biobank to sequence 10,000 genomes with #HiFi #Revio @unitartu @MilanLili @maitbb investor.pacificbiosciences.com/news-releases/…
A year on - come along to find out how researchers @EarlhamInst have been using the @PacBio #Revio to scale up long-read genome assembly, metagenomics, and single-cell RNA sequencing, with talks from @EI_single_cell, @jonwright99, @chrisquince, @mcmullan0, and @Falk_tw
In April, we're hosting @PacBio at the Earlham Institute for a day of discussions and talks exploring the use of #HiFi reads, with a focus on applications such as whole genome sequencing, Iso-Seq analysis, and #singlecell sequencing. 🗓️ 18 April 2024 ➡️ okt.to/mDWsF5
Promise: Q40. Reality: See below. .@TGen hits >Q50 on most bases with real liquid biopsy samples on #Onso. #AGBT #AGBT24 #PacBio
Germany's Bioscientia Launches Clinical PacBio HiFi WGS Test to Diagnose Sensory Disorders. Currently being offered to patients with certain sensory disorders as a routine clinical test, the company plans to expand the assay to other genetic disorders. ow.ly/op4u105eXff
“There is a strong need for tools that help with the genotyping and visualization of tandem repeats at the genome scale, now that we have long-read sequencing methods. This toolkit will greatly help with identification of pathogenic tandem repeats.” Editorial Team, Nature Biotech
New preprint! We evaluated @PacBio Revio long-read sequencing for detection of complex SVs in rare disease patients from around Sweden. With very promising results, also for cases with sub-optimal DNA quality! doi.org/10.1101/2023.1…
Congratulations to the @MBRUniversity team for their Arab pangenome preprint. The @PacBio team are delighted that the HiFi data from Sequel IIe and Revio has helped create these important assemblies: researchsquare.com/article/rs-349…
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Neil Ward
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