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
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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
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…
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)
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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
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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…
Boxun Zhao 赵博洵 retweeted
Our lab has an open post-doc position - come join us! We're creating new single-cell technologies to answer basic questions in human genetics and the origins of brain tumors. E-mail here to apply:
evronylab.org/contact/
Please retweet and spread the word!
Boxun Zhao 赵博洵 retweeted
2/2 This article tells the story of discovering a transposon insertion (from whole-genome sequencing) that caused a splicing defect in CLN7, developing an antisense oligonucleotide drug, and the therapy resulting in reduction in seizures--all in <1 yr. nejm.org/doi/full/10.1056/NE…
Boxun Zhao 赵博洵 retweeted
1/3 Wonderful to finally be able to share our paper on the development and deployment of milasen, now online at nejm.org/doi/full/10.1056/NE…. It’s accompanied by thoughtful commentary from Janet Woodcock and Peter Marks of the FDA (nejm.org/doi/full/10.1056/NE…).
Boxun Zhao 赵博洵 retweeted
Boxun Zhao & colleagues investigate somatic L1 mosaicism in Rett & healthy individuals: plos.io/2Di1zE6
