Fantastic. This will make analysis of #HiFiReads so much easier.

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NEW Webinar: Join us next month to hear about new tools in human genomics research that will help you do more and further your discoveries. Learn more here: #PacBio livesocial.seismic.com/tluYk8

⁦Oxford Nanopore⁩ sequence specific errors not seen in chm13 genome nor high quality PacBio reads genomebiology.biomedcentral.com/articles/10.11…

These results stress the need to shift focus to transcript-isoforms to maximize discovery of transcriptomic mechanisms underlying genetic associations with complex traits.👇 medrxiv.org/content/10.110…

Less than 2 weeks left!! Register for the 3rd Iso-Seq social club. Hear the latest and greatest from experts in the field! livesocial.seismic.com/tX6Swl

It vaguely reminds me of something... cumbersome and antiquated.

I’m very excited to have been able to work with Xiao Chen on our first PacBio manuscript describing a method to call the SMN region. Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing biorxiv.org/content/10.110…

a new chapter begins for clinical grade NGS: ≥90% of bases at Q40+ (99.99% accuracy) – 15x more accurate than other benchtop sequencers pacb.com/press_releases… via PacBio

This Revio is a big deal. The $100 genome complemented by a $1k phased genome with repeat expansions and DNA methylation. Probably going to dominate the rare disease space.

.PacBio data drop pacb.com/connect/datase… new WGS datasets for Revio, MAS-Seq single cell and targeted Twist panels

Another great example of how PacBio HiFi reads and hifiasm-meta are fundamentally improving #metagenome assembly! Over 100 circular MAGs from human gut microbiomes, including ~40 uncultured species. 1/3 nature.com/articles/s4146…

.Arby Abood: PacBio Iso-Seq over timepoint hFOB identifies over 1/3 genes w colocalizing sQTL have differential isoform usage . Example

TPM2 identified as causal gene from PacBio Iso-Seq data.

Listening to talks about rare disease diagnostics on the last day of #ASHG22, getting the feeling that many current advances for short read diagnostics will be swept away as irrelevant in the upcoming long read era. A transition point for the field.

Great presentation by M. Noyes, “In summary, long-read #sequencing and validation recovers 33% more de novo variation compared to short-read sequencing, including in repetitive sequences, where the mutation rate could be more than 40% higher than genome-wide.” #PacBio #ASHG22

Very excited to (finally) post our pre-print for FLAIRR-seq: A novel method for single molecule resolution of near full-length immunoglobulin heavy chain repertoires biorxiv.org/content/10.110… Congrats to Easton E. Ford & the rest of our team for the hard work!

Understanding cell heterogeneity at the isoform level is critical for basic & disease research. Join #PacBio scientists Liz Tseng, @velociroger, & Harsharan Dhillion to discuss the MAS-Seq method, an all-new kitted single-cell transcriptomics solution: livesocial.seismic.com/tgbiDG