Stars
Pipeline to find aberrant events in RNA-Seq data, useful for diagnosis of rare disorders
RNAseq pipeline for alternative splicing junctions
This repository contains data indexes from NIST's Genome in a Bottle project.
Containerization is a Swift package for running Linux containers on macOS.
Scripts for my MS thesis chapter 2: A supervised machine learning approach to predict tumor status through telomere content variation analysis.
Biomni: a general-purpose biomedical AI agent
Robin: A multi-agent system for automating scientific discovery
A repository for collecting GPU basecalling stats
An R package and Colab notebook for variant effect calibration to ACMG/AMP evidence strength
Workflow to annotate SNVs, indels, and structural variants
for visual evaluation of read support for structural variation
MMseqs2: ultra fast and sensitive search and clustering suite
eLaRodON: identification of large genomic rearrangements in Oxford Nanopore sequencing data
Decoding biological age from face photographs using deep learning.
Combine structural variation outputs from long sequencing reads into a superior call set
A local-haplotagging-based small and structural variant caller
Data and analysis for NA12878 genome on nanopore
MiMo: Unlocking the Reasoning Potential of Language Model – From Pretraining to Posttraining
Variant calling tool for long-read sequencing data
MAS-Iso-Seq Isoform Identification and Quantification