Sarah Kingan

I am so excited to announce the PureTarget repeat expansion panel from @PacBio! This is a targeted sequencing kit that captures 20 pathogenic repeats linked to neurological disease #puretarget" target="_blank" rel="nofollow noopener">pacb.com/products-and-s…

#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

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/…

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…

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

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 your fear-mongering, lies, and promises. Fascism needs a bold leader…the only one who can fix things…a dictator who has the vision and expects others to follow (including women…whether they like it or not). I believe that history is indeed speaking to us — and those who refuse to learn from it are doomed to repeat it. To learn how fascism hijacked Germany a century ago, just watch this five-minute clip. If you care about our democracy and love our country, it’s hard to stop watching. This is an excerpt from my hourlong public television special “The Story of Fascism in Europe,” which is streaming free (and ad-free) at ricksteves.com/fascism. When I produced it back in 2018, I hoped this day would never come in our country. But November 5th is upon us. Please share this with anyone in your life who might need a reminder that the stakes are high…and this is very real.

@Magdoll Creepy white walker!

Halloween look this year. I only freaked out all the kids that came to our house Halloween party including my own kids who asked me if I could “take my eyeballs out” 🧟

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 ….

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!

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

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

So much FOMO!

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…

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 is missing from his grant? Tune in next week for episode 2! #PacBio #HiFisequencing #ASHG24

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

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. @drsarahdoom @PacBio @researchmyology @Inst_Myologie @institut_curie @DM1research @dm_scope

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…

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

We have a new @PacBio Compatible partner, @seqWell! 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!

#RepeatExpansionDisorders are up to three times more common than current estimates. Underdiagnosis or reduced penetrance? by our wonderful dream team @kriski_ibanez @mattzano @chrsclrksn + Bharati Jadhav & Andy Sharp nature.com/articles/s4159…