Boxun Zhao 赵博洵

Understanding the importance and functional impact of transposon insertions in human genomes and diseases; translating scientific discoveries into therapeutics.

[Yanmei Dou @douyanmei]

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. https://t.co/ixQdxocPHs #mosaic #microsatellite #AD #aging #STR

[Yanmei Dou @douyanmei]

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. https://t.co/upVATwFPyp #singlecell #lineage

[Yanmei Dou @douyanmei]

Excited to present #SpaceTracer! We now enable accurate somatic mutation detection directly from spatial data—unlocking perturbation-free, spatiotemporal lineage tracing. https://t.co/cL1vOzpa5G #spatialomics #cancerresearch #bioinformatics #SomaticMosaicism

[SMaHT Network @SMaHTnetwork]

🧬 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: https://t.co/uXArDHEtHn

[Eunjung Alice Lee @EAliceLee2]

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

https://t.co/96zicXVrBB

[Bo Xia @BoXia7]

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? https://t.co/jTcOAH0Fcs @ItaiYanai @JefBoeke

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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 !

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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 !

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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 !

[Tim Yu @timyu]

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

https://t.co/6Hx8S2XVpn

[Boxun Zhao 赵博洵 @ZhaoBoxun]

@jaehyeon_lee_ml @TheACMG @BostonChildrens Thanks Jae!😀

[Boxun Zhao 赵博洵 @ZhaoBoxun]

@QianXuyu @timyu Thank you Xuyu!

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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.

[ACMG @TheACMG]

Boxun Zhao, PhD @BostonChildrens is the 2022 recipient of the #ACMGFoundation David L. Rimoin Inspiring Excellence Award. #ACMGMtg22 @ZhaoBoxun https://t.co/tddp6DbFID

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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

[Tim Yu @timyu]

A thread re: work from our group published last week in @GIMJournal, wrapping up a rare disease diagnostic odyssey 5+ yrs in the making: https://t.co/Gywv8yNI4g (1/n)

[Boxun Zhao 赵博洵 @ZhaoBoxun]

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!

[Mila's Miracle @stopbatten]

Yesterday, Mila’s spirit left her body. A day so trying that it will forever change me.

[Tim Yu @timyu]

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