Tnvyr.
@compbio_
Post-doc researcher at Cancer Data Science Lab (NIH/NCI) with @MishaKolmogorov
"Toward Same-Day Genome Sequencing in the Critical Care Setting" nejm.org/doi/abs/10.105…
Accurate somatic small variant discovery for multiple sequencing technologies with DeepSomatic go.nature.com/4qa6m0d
From @JAMA_current: #Microplastics are increasingly detected in human tissues, with potential links to cognitive, cardiovascular, and inflammatory outcomes. 📌 Learn more in this JAMA Insights: ja.ma/4nROUvH
Also check out the other preprints as part of the @SMaHTnetwork including the flagship paper. Many thanks to the entire consortium for working together to make this happen. yay team science! biorxiv.org/content/10.110…
A telomere-to-telomere map of somatic mutation burden and functional impact in cancer biorxiv.org/content/10.110… #biorxiv_genomic
NIH researchers create algorithm to detect somatic structural variation in cancer genomes using long-read sequencing #NBTintheNews via @oncodaily oncodaily.com/insight/somati…
🚨 Big news! As promised, we’ve open-sourced the CpGPT codebase — bringing this powerful DNA methylation foundation model to researchers and developers worldwide: github.com/lcamillo/CpGPT/ 🖥️ The release includes model architecture, fine-tuning scripts, pre-trained weights, and a…
Excited to share CpGPT, a new foundation model for DNA methylation, crafted to understand the 'language' of epigenetics! 🧬🤖 What’s CpGPT? CpGPT is a transformer model pre-trained on CpGCorpus, a huge dataset of public DNA methylation info. By integrating sequence, positional,…
New online! Structural variants in the 3D genome as drivers of disease bit.ly/44FiIo5
Targeting DNA damage in ageing: towards supercharging DNA repair nature.com/articles/s4157… This new Review discusses approaches to pharmacologically mitigate the adverse effects of DNA damage to prevent mutation-driven cancers and mitigate age-related degenerative diseases
On the days I feel lost, I return to this, and it always reignites me.
Nature research paper: Human de novo mutation rates from a four-generation pedigree reference go.nature.com/3ECWGs2
A milestone for our lab! Here's a full text link: rdcu.be/egmYb
Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing go.nature.com/3R334eH
New Huang lab publication. A comprehensive review of nanopore environmental analysis. And, it is open access, which should be convinient for most readers. pubs.acs.org/doi/10.1021/ja…
[Review]Toward single-molecule protein sequencing using nanopores. Author predict that, more likely than not, nanopores will be capable of identifying full-length proteins at the single-molecule level and with single-amino acid resolution, paving the way to single-molecule…
“The leaders of the Human Genome Project always knew they were just starting a conversation” The human genome encodes potentially thousands of tiny proteins that were previously overlooked. The search is on to find out what they do go.nature.com/3Ck1qBP
Rearranging mammalian genomes with recombinases to study structural variants at scale provides insights into genome organization and dispensability. science.org/doi/10.1126/sc… and science.org/doi/10.1126/sc… #NBThighlight
Most human cells in your body do not have DNA / genomes. ~ 90 % do not have DNA. ~ 10 % have DNA
Step-by-step guide to detecting A-to-I editing! Nanopore sequencing to detect A-to-I editing sites. #nanopore #DRS #Edit doi.org/10.1016/bs.mie…
Excited to share, our #nanopore work is just published in @NanoLetters !! We propose a new strategy to develop an artificially intelligent (#AI) nanopore with machine learning (#ML) and the quantum transport approach. #nanotechnology #DNAsquencing doi.org/10.1021/acs.na…
We received the hard copy of the Trends in Biosensing Research book - Annina’s 1st book chapter (+ co-authors Til & Julian, aka Team Nanopore)! We covered solid-state nanopores for biomolecular analysis & detection. Thank you for this opportunity @NicolasPlumere & Fred Lisdat! 🧬
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