A machine learning tool to predict tandem repeat pathogenicity
☆12Jan 2, 2024Updated 2 years ago
Alternatives and similar repositories for RExPRT
Users that are interested in RExPRT are comparing it to the libraries listed below
Sorting:
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 3 months ago
- 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 2 months ago
- Introme prioritises coding and noncoding splice-altering variants for clinical variant interpretation☆22Dec 18, 2025Updated 3 months ago
- A CNN model to identify MEIs in WGS☆13Mar 4, 2025Updated last year
- Pre-mAsking Long reads for Mobile Element inseRtion☆10Feb 27, 2023Updated 3 years ago
- PanGenome Graph Building with the first 100 assemblies from the 1000G ONT Sequencing Consortium☆12Apr 5, 2025Updated 11 months ago
- A tool for diagnosing SMA in exome, genome or targeted sequencing data☆13Apr 30, 2025Updated 10 months ago
- Website for checking the SpliceAI, Pangolin, and other predictor scores for variant(s) of interest.☆29Feb 10, 2026Updated last month
- Scripts and utilities for analyzing tandem repeats (TRs).☆43Mar 12, 2026Updated last week
- A lightweight, alignment-free utility for detecting repeat-containing reads in short-read WGS, WES and RNA-seq data.☆18Jan 16, 2026Updated 2 months ago
- Data and information about the Polaris study☆56Nov 18, 2019Updated 6 years ago
- NHC: A computational approach to detect physiological homogeneity in the midst of genetic heterogeneity☆12Feb 25, 2026Updated 3 weeks ago
- Tools for merging Tandem Repeat VCF files☆37Apr 30, 2025Updated 10 months ago
- ☆15Jul 21, 2022Updated 3 years ago
- Burden testing against public controls☆49Feb 27, 2024Updated 2 years ago
- ☆35Nov 1, 2021Updated 4 years ago
- ☆24Jul 29, 2025Updated 7 months ago
- A tool for visualizing alignments of reads in regions containing tandem repeats☆90Dec 19, 2023Updated 2 years ago
- An easy-to-use python package can be used for genomic visual analysis☆21Apr 20, 2024Updated last year
- Tandem Repeats Caller for LOng Reads☆17May 28, 2021Updated 4 years ago
- Convert RepeatMasker ".out" file into a gff3 with colors!!!☆24Aug 20, 2020Updated 5 years ago
- Alignment-based Scrubbing pipeline☆21Mar 14, 2024Updated 2 years ago
- Category-wide association study (CWAS) (Werling et al., 2018; An et al., 2018)☆10Dec 12, 2025Updated 3 months ago
- Miscellaneous scripts for applications of PacBio systems☆27Apr 19, 2022Updated 3 years ago
- snakemake workflow for post-processing scATACseq data☆23Jul 15, 2020Updated 5 years ago
- StrVCTVRE, a structural variant classifier for exonic deletions and duplications☆19Dec 6, 2023Updated 2 years ago
- Tandem repeat expansion detection or genotyping from long-read alignments☆147Nov 24, 2025Updated 3 months ago
- Epigenetic Smoking status Estimator☆10Nov 24, 2020Updated 5 years ago
- Tandem repeat genotyping and visualization from PacBio HiFi data☆133Dec 8, 2025Updated 3 months ago
- The modern argument parser for c++ tools☆11Updated this week
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Apr 28, 2025Updated 10 months ago
- A short tandem repeat (STR) genotyping and analysis toolkit for long reads☆18Updated this week
- A new extended cell deconvolution for peripheral blood☆18Feb 28, 2025Updated last year
- Tandem repeat genotyping with long reads☆35Sep 23, 2025Updated 5 months ago
- Dynamic time warping of Oxford Nanopore squiggle data to characterize tandem repeats.☆32Jul 2, 2020Updated 5 years ago
- A variant caller for the GBA gene using WGS data☆23Jul 31, 2024Updated last year
- ☆23Sep 21, 2021Updated 4 years ago
- ☆14Oct 20, 2022Updated 3 years ago
- WDL workflows for variant calling and assembly using ONT☆39Updated this week