Husband | Father | Scientist @PacBio
San Diego, California
Joined October 2011
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Happy that our manuscript describing TRGT is now available. If you would like to learn more about the importance of tandem repeats and the variation that must be measured when studying them, please also check out the accompanying research briefing: nature.com/articles/s41587-0…
Mike Eberle retweeted
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! @EichlerEE @uwgenome @HHMINEWS
Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @Nature @uwgenome @EichlerLab @UWMedicine @UUtah @PacBio tinyurl.com/w5wydzck
ALT A family tree, with males designated with squares and females with circles. The concept of newly arising mutations is illustrated with leaves of a different appearance. Image courtesy of David Porubsky and modified from Adobe Stock.
Mike Eberle retweeted
Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @Nature @uwgenome @EichlerLab @UWMedicine @UUtah @PacBio tinyurl.com/w5wydzck
ALT A family tree, with males designated with squares and females with circles. The concept of newly arising mutations is illustrated with leaves of a different appearance. Image courtesy of David Porubsky and modified from Adobe Stock.
Mike Eberle retweeted
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
Advanced genomic analysis of 4 generation family offers new knowledge about genetic mutations & their transmission, including inherited variants & those that arise anew @Nature @uwgenome @EichlerLab @UWMedicine @UUtah @PacBio tinyurl.com/w5wydzck
ALT A family tree, with males designated with squares and females with circles. The concept of newly arising mutations is illustrated with leaves of a different appearance. Image courtesy of David Porubsky and modified from Adobe Stock.
Mike Eberle retweeted
Nature research paper: Human de novo mutation rates from a four-generation pedigree reference
go.nature.com/3ECWGs2
Mike Eberle retweeted
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
Mike Eberle retweeted
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 @GeneticNijmegen @radboudumc!
#RevioOlympics
Mike Eberle retweeted
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
Mike Eberle retweeted
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/S0002…
Mike Eberle retweeted
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…
Mike Eberle retweeted
Are you interested in targeted #sequencing? Make sure to check out Tom Mokveld's #PacBio poster at #LRUA24 to learn more!
Mike Eberle retweeted
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
Mike Eberle retweeted
What a stage! ✨
@Somar1987 presenting our #PacBio intro talk this morning at #LRUA24. If you have any follow-up questions, make sure to stop by our booth. #HiFiSequencing
Mike Eberle retweeted
Help shape MND/ALS research! 🧠 LifeArc’s new survey focuses on tech to improve daily life with MND. Last time, @lifearc1 received 200 responses—thank you! 🙏
📢 If you have MND/ALS, care for someone, or are at risk, your input is crucial. @lifearc1
What technology could help improve daily life for those living with #MND?
We'd like to better understand the daily challenges to guide the development of new technologies and inform our future research and investment.
Share your thoughts in our survey: t.ly/hQTI_
Mike Eberle retweeted
Another #Review highlight: Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications go.nature.com/43eV9jM by @IndhuShreeRB, @egor_dolzhenko, @MikeEberle & Jan M. Friedman @UBC @BCCHresearch @PacBio