Stars
DNA 5mC methylation detection from Dorado or Guppy basecalled Oxford Nanopore reads
A system for the curation of Variants of Uncertain Significance (VUS)
Catalog of G6PD variants, genotype-phenotype associations, and functional information
Share medical letter automatically translated, de-identified and summarized using deep learning
A program designed to generate all possible guides targeting a SNP to use with CBE or ABE CRISPR reagents
AirPods liberated from Apple's ecosystem.
for manuscript "Characterization of sequencing error profile in three next generation sequencing platforms"
Regenotyping structural variants through an accurate and efficient force-calling method
A set of ready to use scientific skills for Claude
Svirlpool: structural variant detection from long read sequencing by local assembly
Code associated with allele sequence reconstruction from long read amplicon data.
LongQC is a tool for the data quality control of the PacBio and ONT long reads.
Lightweight mosaic/somatic SV caller for long reads (WIP)
Extremely fast and accurate Nanopore demultiplexing
A modular annotation tool for genomic variants
A fast, robust and accurate variant calling software for human germline DNA analysis
ARCLID: Accurate and Robust Characterizing of Long Insertion and Deletions in Genome
A high-performance modification detection tool in Rust
GRIDSS: the Genomic Rearrangement IDentification Software Suite
A Python package for pharmacogenomics (PGx) research