Another #Review highlight: Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications go.nature.com/43eV9jM by @IndhuShreeRB, Egor Dolzhenko, Mike Eberle & Jan M. Friedman University of British Columbia BC Children's Hospital Research Institute PacBio

Help shape MND/ALS research! 🧠 LifeArc’s new survey focuses on tech to improve daily life with MND. Last time, LifeArc received 200 responses—thank you! 🙏 📢 If you have MND/ALS, care for someone, or are at risk, your input is crucial. LifeArc

Excited to be at #LRUA24 Long-reads meeting in Uppsala where I get to meet so many friends and learn about amazing science and technology LongTREC will be leading the lrRNAseq workshop!! PacBio Oxford Nanopore

What a stage! ✨ Somar Al-Walai presenting our #PacBio intro talk this morning at #LRUA24. If you have any follow-up questions, make sure to stop by our booth. #HiFiSequencing

Are you interested in targeted #sequencing? Make sure to check out Tom Mokveld's #PacBio poster at #LRUA24 to learn more!

Join us at #ASHG24 for a featured symposium from Egor Dolzhenko on profiling genetic and epigenetic variation in tandem repeat regions using #HiFisequencing. Learn how this approach is advancing precision #genomics research. Details: bit.ly/3XZLVpt #PacBio

Was your answer also pharmacogenomics? Then I have some exciting things to show you at #ASHG24... Looking forward to next week in Denver! #PacBio #PGx

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…

Vote is cast. Nothing to do but wait. On to Denver for #ASHG24 … catching up with new science and old friends. I’m #hiring. Keen to make new friends interested in relocating to the NY area to develop tools and methods to help human genetics scale. DM me. 1/3

Hey PacBio party attendees if you find a necklace in shape of a silver losange can you ping me? I lost it tonight. It has sentimental value to me. #ASHG2024 #ASHG24

Xiao talking now about using Paraphase and HiFi data to resolve segmental duplications genome wide

Fantastic turnout at #ASHG24 for Xiao Chen’s platform talk! 🎉 She shared exciting insights on using #HiFisequencing for genome-wide profiling of highly similar paralogous genes. Thank you to everyone who joined us to explore the power of #PacBio technology! #ASHG2024

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/…

Just back from #ashg24 - new record by an automated library prep for a Revio SMRT cell: 8.1 M reads; 133.0 Gb; 16.4 kb avg size; Q34. …and this is before upgrade to SPRQ! Great lab team Human Genetics Nijmegen, Radboudumc Radboudumc! #RevioOlympics

I will be hosting an information session for applicants to the USC Computational Biology and Bioinformatics PhD program, discussing research topics and application strategies. If you are registering with a non-institutional e-mail, please let me know tinyurl.com/cbb-qbio-info

“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

Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew nature UW Genome Sciences EichlerLab UW Medicine University of Utah PacBio tinyurl.com/w5wydzck

Our Nature paper (rdcu.be/ei1NM) deep sequencing a 4-generation, 28-member family using multiple sequencing technologies to study transmission of all classes of genetic variation is out! Evan Eichler UW Genome Sciences HHMI

A first in human genomics: a 4-generation pedigree reference, now in Nature. Built with #PacBio HiFi, it maps de novo mutation rates, reveals paternal bias, and captures high mutation rates in tandem repeats—even in Y and repeat-rich regions. Paper here: go.nature.com/4lGMPlP

Nature research paper: Human de novo mutation rates from a four-generation pedigree reference go.nature.com/3ECWGs2