🧬I'm delighted to be co-organising this 2nd workshop of long read sequencing and expanded tandem repeat in Paris! Looking forward to these 3 exciting days ahead! 89 participants Thanks to our sponsors PacBio Oxford Nanopore LoQus23 Therapeutics AFM-Téléthon Twist Bioscience CHDI Foundation

Are you wondering how to achieve the best #HiFi data from your samples? It's all in the preparation 😉 Join our webinar Oct 3 to learn more! We are welcoming everybody but it'll be Australia afternoon or European early bird 🐦☕️ or AMR night owl 🦉😴 Millennium Science PacBio

#RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance? by our wonderful dream team kibanez Matteo Zanovello Chris Clarkson + Bharati Jadhav & Andy Sharp nature.com/articles/s4159…

We have a new PacBio Compatible partner, seqWell, Inc.! On October 8th come and find out more about their cost-effective #LongPlex enzymatic fragmentation and barcoding product for microbial, hyb capture, and low-depth applications – among others!

An exciting new study from Boston Children’s Hospital and Harvard Medical School leverages #PacBio long-read sequencing to resolve undiagnosed pediatric sensorineural hearing loss. bit.ly/3BtVZzm #RareDisease #HiFisequencing

Tandem repeat catalogs directly affect the sensitivity, cost, and accuracy of TR genotyping studies. In this paper, we discuss TR catalogs and share a new catalog of 4.9 million loci biorxiv.org/content/10.110…

Our preprint is online. CCG interruptions are unstable and hypermethylated in DM1 patients. biorxiv.org/cgi/content/sh…. A great collaborative effort! Thank you to all the authors. Sarah Kingan PacBio Centre of Research in Myology (UMRS 974) Institut de Myologie Institut Curie DM1Research DM-Scope

Tight grant deadlines,⏰ Trying to keep track of all the #sequencing tech 🧬, #GenomicsResearchLife. Can you relate? 🙋🏻‍♀️ Introducing, the PacBio PI Chronicles, a new limited series starring our very own @magdoll, and the pilot episode just dropped! What did Mary tell Peter that

Hello Internet, it’s me, Peter - just trying to figure out if I need PacBio long reads for my repeat expansion grant.

Our article on how Cas9 nickase induces contraction of expanded CAG repeats is published! Go on, read it, you know you want to. One step closer to the clinic! (But still some ways to go…) academic.oup.com/narmolmed/arti…

So much FOMO!

NEW: Get an exclusive look on how tomorrow’s technologies are built today with a 360° video lab tour led by #PacBio CEO, Christian Henry, at our Menlo Park HQ in the heart of Silicon Valley. bit.ly/3UdXyHZ #WelcomeToTomorrow

If you missed the pilot episode of the PacBio PI Chronicles last week - catch up now cuz…episode 2 is dropping tomorrow 😎

Hi internet, it's me, Peter the Genomics PI. Mary convinced me to look into PacBio HiFi for my research grant last time...check out what's happened since then. And stay tuned for the next episode next week!

I think a lot of people are actually canceling their wapo subs. It’s not like the usual round of claims. But I think the brand damage to the Post may be greater than people realize and go beyond the near term hit on subs. A big slice of America is living in a climate of ….

How do fascists derail democracy? If you study history (or read Project 2025), it’s almost like there’s a recipe book: goose the economy, abolish unions, privatize what’s public, win the support of tycoons. But at what cost? Mesmerize your base so they don’t care. Blind them with

Full thing can be found here: youtu.be/YE1f3n_n9UA?si…

In Sweden, we've been running a nationwide pilot project using PacBio WGS for rare disease. Check out our results in this new paper! genome.cshlp.org/cgi/content/lo…

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 cell.com/ajhg/fulltext/…

#PacBio enters the carrier screening market with new #PureTarget kits. A single test can now replace multiple specialized assays, streamlining workflows for labs and clinicians. Learn more: bit.ly/46trXre