pathoscore evaluates variant pathogenicity tools and scores.
☆22Mar 25, 2022Updated 3 years ago
Alternatives and similar repositories for pathoscore
Users that are interested in pathoscore are comparing it to the libraries listed below
Sorting:
- Building the constrained coding regions (CCR) model☆16Dec 19, 2018Updated 7 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- Detects human contamination in bam files☆16Sep 10, 2020Updated 5 years ago
- DNA kmer operations for nim☆14Apr 24, 2022Updated 3 years ago
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 2 months ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 6 years ago
- find large indels (in the blind spot between GATK/freebayes and SV callers)☆39Dec 3, 2017Updated 8 years ago
- ☆14Oct 29, 2021Updated 4 years ago
- High-level API for storing and querying sequence variant data☆20May 24, 2019Updated 6 years ago
- kASA - k-Mer Analysis of Sequences based on Amino acid-like encoding☆23Aug 23, 2023Updated 2 years ago
- The python binding for D4 format☆16Oct 22, 2021Updated 4 years ago
- Efficient C functions to compute the summary statistics (flagstats) for sequencing read sets.☆15Dec 16, 2019Updated 6 years ago
- Example project for integrating igv.js and flask☆26May 17, 2025Updated 9 months ago
- Numerical Encoding for Human Genetic Variants☆42Jun 8, 2023Updated 2 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- Implicit Interval Tree with Interpolation Index☆42Jul 13, 2022Updated 3 years ago
- A curated list of awesome clonality and tumor heterogeneity resources☆15Jun 25, 2019Updated 6 years ago
- This repository contains the code to run the ASCETS arm-level copy number events caller for targeted sequencing data. ASCETS produces arm…☆18Jan 31, 2024Updated 2 years ago
- Tissue-specific variant effect predictions on splicing☆42May 23, 2023Updated 2 years ago
- Python package to query and analyse UniProt☆25Sep 8, 2020Updated 5 years ago
- Genomic VCF to tab-separated values☆48Mar 9, 2023Updated 2 years ago
- useful command-line tools written to showcase hts-nim☆50Nov 10, 2020Updated 5 years ago
- Arioc: GPU-accelerated DNA short-read alignment☆70May 20, 2025Updated 9 months ago
- SV clustering☆31Jul 5, 2021Updated 4 years ago
- BigWig and BAM utilities☆103Mar 26, 2024Updated last year
- annotate a VCF with other VCFs/BEDs/tabixed files☆398Aug 30, 2025Updated 6 months ago
- Retrieve data in genomic intervals with a Python interface for tabix.☆82Aug 10, 2017Updated 8 years ago
- reference free variant assembly☆34Jul 14, 2023Updated 2 years ago
- Streaming relation (overlap, distance, KNN) of (any number of) sorted genomic interval sets. #golang☆47Jul 12, 2020Updated 5 years ago
- a tool for processing .bed and .vcf files☆21Apr 25, 2017Updated 8 years ago
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- Website to analyze conflicting assertions in ClinVar☆19Jan 24, 2026Updated last month
- structural variant calling and genotyping with existing tools, but, smoothly.☆264Jun 17, 2024Updated last year
- VariantStore: A Large-Scale Genomic Variant Search Index☆39Jul 9, 2021Updated 4 years ago
- Contains the description of a file format to store kmers and associated values☆34Aug 17, 2022Updated 3 years ago
- a string to graph aligner☆41Jul 5, 2016Updated 9 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Feb 17, 2022Updated 4 years ago
- Hidden Markov Model based Copy number caller☆20Dec 9, 2025Updated 2 months ago