I'm starting to transition away from here so I wrote a longer summary of the manuscript where the skies are blue 🦋. If you aren't on there yet, there's no time like the present 😀

I just released a new preprint! The manuscript describes SVTopo, a software tool that enhances visualization of complex SVs using HiFi data:

Sometimes vaccine efficacy is subtle Sometimes it isn't

“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

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

Check out these examples (from HG002):

I wrote SVTopo to make it easier to understand structural variants like: inversions with flanking deletions/duplications; non-tandom inversions, non-tandem duplications; translocations; and combination rearrangements of deletion, duplication, inversion, etc. #PacBio #HiFi

HiFi sequencing does a great job of identifying structural variation, but I've spent many hours struggling with visualization tools to understand what's really going on in complex rearrangement

I'm happy to announce that SVTopo, a new computational tool from PacBio ( https://t.co/W6sHuB0Ps9), 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

Happy to introduce sawfish, a new HiFi structural variant caller emphasizing local haplotype modeling to improve SV representation and genotyping in both single and joint-sample analysis contexts: 1/n https://t.co/P3kp1QUd45

A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree https://t.co/vOAv3jhRcT #biorxiv_genomic

I’m happy to say that we’ve just released a manuscript on bioRxiv describing our new tool TRGT-denovo. This new method was developed by Tom Mokveld and @egor_dolzhenko along with the help of many collaborators (1/n)

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”:

Characterization and visualization of tandem repeats at genome scale https://t.co/zSE5haiB3r

Great @biorxivpreprint: how you can call LPA CNV from @illumina WGS. This is a sig. step forward for studying #cardiovascular risk. 60% of samples report phased CNV -> improves phenotype correlation. @BCM_HGSC @MikeEberle @jon_belyeu @srbehera11 https://t.co/03aedlT7bR

In case you’re interested but not present:

Hello #ASHG22! Check out poster PB2257 to learn how we call copy number in the LPA region with #illumina WGS. I’ll be at the poster between 3-4:45 tomorrow

Checkout PB2257 #ASHG22 by #Illumina's @jon_belyeu, @sedlazeck and Baylor U. They show how to estimate total and allele-specific KIV-2 repeat length, which strongly impacts #CVD risk. A challenging genomic region that provides enormous medical insight, coming to #DRAGEN soon.

At #ASHG22 next week, we will have Illumina bioinformatics developers present three posters throughout the week. PB2257: LPA calling from WGS PB2906: Graph alignment for medically relevant genes PB2751: #PGx from #WGS

Very happy to share my first research article @illumina on genotyping HBA1 and HBA2 genes from whole-genome sequencing data: https://t.co/4F87S1V6ku.