Understanding the importance and functional impact of transposon insertions in human genomes and diseases; translating scientific discoveries into therapeutics.
Boston, MA, USA
Joined November 2018
- Tweets35
- Following98
- Followers114
- Likes26
Boxun Zhao 赵博洵 retweeted
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/10.64898… #mosaic #microsatellite #AD #aging #STR
Boxun Zhao 赵博洵 retweeted
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/shor… #singlecell #lineage
Boxun Zhao 赵博洵 retweeted
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/shor… #spatialomics #cancerresearch #bioinformatics #SomaticMosaicism
Boxun Zhao 赵博洵 retweeted
🧬 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/s41586-0…
Boxun Zhao 赵博洵 retweeted
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
Boxun Zhao 赵博洵 retweeted
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
How did we lose our tail? A simple question.. but it wasn't really asked before! We discovered a plausible scenario for the genetic mechanism that led to tail loss. Amazing that such a big change may have been caused by such a small genetic event. nature.com/articles/s41586-0… @BoXia7
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 !
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 !
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 retweeted
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/s41586-0…
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.
Boxun Zhao, PhD @BostonChildrens is the 2022 recipient of the #ACMGFoundation David L. Rimoin Inspiring Excellence Award. #ACMGMtg22 @ZhaoBoxun bit.ly/36kk1h1
Boxun Zhao 赵博洵 retweeted
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)
This Post is from an account that no longer exists. Learn more
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!
Boxun Zhao 赵博洵 retweeted
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
This Post is from an account that no longer exists. Learn more
Boxun Zhao 赵博洵 retweeted
Yes, it took almost a year, and comes out in the middle of vacation, but @junhokimkr ‘s incisive critique of the claim of somatic amplification of the APP locus in AD is finally out!
Great to see this study from our lab published. @junhokimkr et al show the importance of vector contamination for the study of structural variants in NGS, with implications to a previous finding regarding APP recombination in Alzheimer's Disease
www-nature-com.ezp-prod1.hul…
Reanalysis of the original data revealed evidence that APP gencDNA originates mainly from exogenous contamination by APP recombinant vectors, nested PCR products, and human and mouse mRNA. Clean your bench before constructing library. nature.com/articles/s41586-0…
I am thrilled to receive the 2020 @MantonCenter Rare Disease Research Fellowship and excited to join this extraordinary group of fellows. A big thanks to co-mentors E. Alice Lee and @timyu for mentoring and supporting my researches on transposon and ASO. childrenshospital.org/resear…