Paul Lee
@paulclee.bsky.social
MD-PhD student, Washington University in St. Louis | Penn ‘19
Reposted by Paul Lee
How do non-coding variants in enhancers lead to disease? Happy to share our recent work, led by @ewholling.bsky.social, in which we discovered that poised chromatin sensitizes enhancers to aberrant activation by non-coding mutations, contributing to disease. www.biorxiv.org/content/10.1... 1/
June 23, 2025 at 12:57 PM
How do non-coding variants in enhancers lead to disease? Happy to share our recent work, led by @ewholling.bsky.social, in which we discovered that poised chromatin sensitizes enhancers to aberrant activation by non-coding mutations, contributing to disease. www.biorxiv.org/content/10.1... 1/
Reposted by Paul Lee
The "kitchen sink" of omics to solve the basis for an undiagnosed disease: long read genome , transcriptome, methytome, epigenome, all synchronized (a first)
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition - Nature Genetics
Simultaneous profiling of the genome, methylome, epigenome and transcriptome using single-molecule chromatin fiber sequencing and multiplexed arrays isoform sequencing identifies the genetic and molec...
www.nature.com
January 29, 2025 at 2:45 PM
The "kitchen sink" of omics to solve the basis for an undiagnosed disease: long read genome , transcriptome, methytome, epigenome, all synchronized (a first)
www.nature.com/articles/s41...
www.nature.com/articles/s41...
Reposted by Paul Lee
Multiscale footprints reveal the organization of cis-regulatory elements https://www.nature.com/articles/s41586-024-08443-4 🧬🖥️🧪 https://github.com/buenrostrolab/scPrinter https://github.com/buenrostrolab/PRINT
Multiscale footprints reveal the organization of cis-regulatory elements - Nature
We developed PRINT, a computational method that identifies footprints of DNA–protein interactions from bulk and single-cell chromatin accessibility data across multiple scales of protein size.
www.nature.com
January 23, 2025 at 7:30 PM
Multiscale footprints reveal the organization of cis-regulatory elements https://www.nature.com/articles/s41586-024-08443-4 🧬🖥️🧪 https://github.com/buenrostrolab/scPrinter https://github.com/buenrostrolab/PRINT