Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation
☆22Dec 18, 2025Updated 2 months ago
Alternatives and similar repositories for introme
Users that are interested in introme are comparing it to the libraries listed below
Sorting:
- A machine learning tool to predict tandem repeat pathogenicity☆12Jan 2, 2024Updated 2 years ago
- A bioinformatics best-practice analysis pipeline for calling structural variants (SVs), copy number variants (CNVs) and repeat region exp…☆27Feb 23, 2026Updated last week
- A tool that lets you quickly flip through images in a local directory and record notes or answer questions about each one.☆21Jan 4, 2026Updated last month
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆12Apr 5, 2025Updated 10 months ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Feb 10, 2026Updated 2 weeks ago
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Jan 16, 2026Updated last month
- A bioinformatics best-practice analysis pipeline for the analysis of shallow whole genome sequencing (sWGS) data for the identification o…☆14Updated this week
- Expanded STR algorithm for Illumina sequencing data☆23Sep 11, 2022Updated 3 years ago
- ☆39Jul 3, 2025Updated 7 months ago
- Alignment-free genotyper for SNPs and short indels, implemented in Python.☆54Mar 7, 2025Updated 11 months ago
- ☆24Jul 29, 2025Updated 7 months ago
- Copy Number Methods for Detection and Genome Wide Association Tests☆22Nov 4, 2024Updated last year
- ☆20Nov 30, 2023Updated 2 years ago
- ☆18Jun 3, 2020Updated 5 years ago
- A CNN model to identify MEIs in WGS☆12Mar 4, 2025Updated 11 months ago
- Pre-mAsking Long reads for Mobile Element inseRtion☆10Feb 27, 2023Updated 3 years ago
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆29Feb 10, 2026Updated 3 weeks ago
- Runs a combination of tools to generate structural variant calls on short-read whole-genome sequencing data☆22Nov 17, 2021Updated 4 years ago
- SingleCell: A Python/Cython Package for Processing Single-Cell RNA-Seq Data.☆11Jan 26, 2018Updated 8 years ago
- A nextflow pipeline for calling exome CNVs☆13Updated this week
- Systematic analyses of intronic polyadenylation from standard RNAseq data☆16Sep 10, 2024Updated last year
- Programs for performing various population genetic analyses☆11Dec 2, 2024Updated last year
- ☆10Aug 13, 2025Updated 6 months ago
- ☆23Sep 21, 2021Updated 4 years ago
- Burden testing against public controls☆50Feb 27, 2024Updated 2 years ago
- An R package for performing MetaSTAAR procedure in whole-genome sequencing studies☆27Nov 9, 2024Updated last year
- ☆13Sep 11, 2025Updated 5 months ago
- Hemang Parikh☆11Jan 12, 2016Updated 10 years ago
- ☆11Jun 26, 2020Updated 5 years ago
- Ascertained Sequentially Markovian Coalescent☆16Oct 22, 2025Updated 4 months ago
- Curated list of resources for variant prioritization☆13Nov 18, 2025Updated 3 months ago
- Nextflow implementation of the smoove workflow and other tools for SV calling and QC☆12Nov 12, 2020Updated 5 years ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- A nextflow pipeline which integrates multiple omic data streams and performs coordinated analysis☆11May 9, 2024Updated last year
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 5 months ago
- A set of tools to annotate VCF files with expression and readcount data☆30Jan 30, 2026Updated last month
- nRex: Germline and somatic single-nucleotide, short indel and structural variant calling☆12Sep 19, 2025Updated 5 months ago
- Draw genetic map (linkage map) in R☆13Nov 12, 2017Updated 8 years ago