Boxun Zhao 赵博洵

Excited to introduce BayesMonSTR, a probabilistic framework to accurately detect genome-wide mosaic STR mutations from scDNA, scATAC and bulk sequencing data. Mosaic STR mutations in mitotic neurons are intriguing. biorxiv.org/content/10.648… #mosaic #microsatellite #AD #aging #STR

Another preprint! Excited to introduce PhyloSOLID, built to be inherently robust to sparsity & noise in single-cell data. Featuring an interactive web interface. Decipher cell fate & evolution with confidence. biorxiv.org/cgi/content/sh… #singlecell #lineage

Excited to present #SpaceTracer! We now enable accurate somatic mutation detection directly from spatial data—unlocking perturbation-free, spatiotemporal lineage tracing. biorxiv.org/cgi/content/sh… #spatialomics #cancerresearch #bioinformatics #SomaticMosaicism

🧬 The SMaHT marker paper is now live in @Nature This landmark study characterizes somatic variation across 19 tissue types from 150 nondiseased donors, laying the groundwork for future discoveries in health, aging, and disease. Read the full paper: nature.com/articles/s4158…

Join us for the inaugural Keystone Meeting on somatic mosaicism as leading experts gather to discuss the latest advances shaping the future of human genetics/genomics. Scholarship & Abstract Deadline: Nov. 14, 2024 | Early Registration: Dec. 23, 2024 shorturl.at/MU678

A true curiosity-driven journey, fulfilling one of my childhood dreams! The tail loss marks a pivotal evolutionary step towards humans and apes. But how did it happen? rdcu.be/dzTba @ItaiYanai @JefBoeke

Finally, we thank the affected individuals and their families for their participation. Special thanks to the support from the Manton Center for Orphan Disease Research @MantonCenter !

In summary, our study underscores the importance of retroelement insertions as an underexplored source of genetic variants and therapeutic targets for genetic diseases. Congrats to all co-authors Minh A. Nguyen, Sijae woo @SijaeW and Jinkuk Kim @jinkukkim !

Published online at AJHG! 🎉 Our work on the "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia". Thanks for the support and guidance from my wonderful co-mentors Drs. E. Alice Lee @EAliceLee2 and Timothy W. Yu @timyu !

Published online today. Congratulations to lead authors @jinkukkim, Sijae Woo, Claudio de Gusmao, and @zhaoboxun, and all of our collaborators. A brief 🧵: nature.com/articles/s4158…

@jaehyeon_lee_ml @TheACMG @BostonChildrens Thanks Jae!😀

Boxun Zhao, PhD @BostonChildrens is the 2022 recipient of the #ACMGFoundation David L. Rimoin Inspiring Excellence Award. #ACMGMtg22 @ZhaoBoxun bit.ly/36kk1h1

@QianXuyu @timyu Thank you Xuyu!

@ZhaoBoxun @timyu Congrats!

I'm thrilled to receive the Award! Big thanks to @timyu & Alice Lee for mentoring, and all participating patients & families. Hope our works from diagnosis to the development of individualized medicines help us envision a better future for the treatment of rare diseases.

@_jennylai_ Thank you so much Jenny for your kind words! I am priviledged to work with you and other trainees in our wonderful labs.

A thread re: work from our group published last week in @GIMJournal, wrapping up a rare disease diagnostic odyssey 5+ yrs in the making: rdcu.be/cf8i7 (1/n)

R.I.P. Mila🕯️ Your story inspired us today's impossibilities are tomorrow's miracles. Your N-of-1 case has gathered scientists, doctors, regulators, patient families, and charitarians to envision a better future to treat rare diseases. Thank you!

Early days, & much to do to establish best practices for managing investigational efforts wisely & fairly. But this marks the start of important conversations re: using platform-based treatments to extend the reach of our system for those w/unmet needs, especially in rare disease