Sign in

Bohan Ni

@bohanni.bsky.social
79 followers 92 following 5 posts

PhD student in CompSci, Johns Hopkins University. I try to find rare and common variants with impacts on traits/health.

PostsRepliesMedia
Reposted by Bohan Ni
Prabuddha Ghosh Dastidar @prabuddhagd.bsky.social · 27/11/2025
Excited to share our work from the Battle Lab! It’s on an innovative deep learning model architecture incorporating biological domain knowledge to predict traits from large scale proteomic data: www.medrxiv.org/content/10.1...
medrxiv.org
Prior knowledge informs graph neural networks to improve phenotype prediction from proteomics
High-throughput proteomics data provides dense individual-level molecular readouts, enabling the development of machine learning models for predicting diverse phenotypes relevant to patient health. Pr...
041
Reposted by Bohan Ni
Josh Weinstock @joshweinstock.bsky.social · 22/07/2025
Really excited to share our new PRS method, developed with @aprilkim.bsky.social and @alexisbattle.bsky.social ! Our approach is to use a lot of recently developed functional annotations to better estimate the weights of the SNPs. www.medrxiv.org/content/10.1...
medrxiv.org
Polygenic prediction of phenotypes with a neural empirical Bayes approach
Polygenic risk scores (PRS) estimate the expected value of a phenotype based on individual genotypes. Although statistical approaches for calculating PRS have advanced considerably in recent years, fe...
12610
Bohan Ni @bohanni.bsky.social · 15/05/2025
Check out the amazing work from my colleague and friend!
020
Reposted by Bohan Ni
Vikram Shivakumar @vikramshivakumar.bsky.social · 09/05/2025
Excited to share our latest work on comparing and visualizing multiple genome assemblies to identify conservation and structural variation in pangenomes with Mumemto! Check out poster 250 at #bog25 if you are here. New preprint coming very soon 👀
03414
Reposted by Bohan Ni
Sara Carioscia @saracarioscia.bsky.social · 07/05/2025
If you are here at #bog25 please check out my poster (number 87) tonight! 😁 Showing our work on common variation associated with aneuploidy in human embryos
0207
Reposted by Bohan Ni
Mingyuan "Merlin" Li @supmerlin.bsky.social · 05/05/2025
1/n 🚨Very excited to share our recent work!🚨 To understand gene regulation across diverse environmental conditions and cellular contexts, we treated a broad array of human cell types with three environmental exposures in vitro. www.biorxiv.org/content/10.1...
33615
Reposted by Bohan Ni
Nature Methods @natmethods.nature.com · 28/03/2025
Uncalled4: a toolkit for nanopore signal alignment, analysis and visualization of DNA and RNA modifications. www.nature.com/articles/s41...
14626
Bohan Ni @bohanni.bsky.social · 26/03/2025
Happy to share our work characterizing functional rare SVs in rare diseases with long-read genome sequencing and transcriptomic outlier data: genome.cshlp.org/content/earl...
genome.cshlp.org
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms
1107
Reposted by Bohan Ni
Vikram Shivakumar @vikramshivakumar.bsky.social · 06/01/2025
Excited to share a preprint for (w/ @benlangmead.bsky.social) our new tool, Mumemto, on biorxiv! Mumemto finds multi-MUMs across pangenomes (i.e. mummer but for pangenomes). It can rapidly visualize synteny, identify misassemblies, and accelerate core genome and multiple alignment, highlighting SVs.
biorxiv.org
Mumemto: efficient maximal matching across pangenomes
Aligning genomes into common coordinates is central to pangenome analysis and construction, but it is also computationally expensive. Multi-sequence maximal unique matches (multi-MUMs) are guideposts ...
13429
Reposted by Bohan Ni
bioRxiv Bioinfo @biorxiv-bioinfo.bsky.social · 06/01/2025
Mumemto: efficient maximal matching across pangenomes www.biorxiv.org/content/10.1101/202…
02212