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
- DNA kmer operations for nim☆14Apr 24, 2022Updated 3 years ago
- Detects human contamination in bam files☆16Sep 10, 2020Updated 5 years ago
- Sample Contamination Estimate from VCF☆20Nov 6, 2024Updated last year
- find large indels (in the blind spot between GATK/freebayes and SV callers)☆39Dec 3, 2017Updated 8 years ago
- The python binding for D4 format☆16Oct 22, 2021Updated 4 years ago
- Detect novel (and reference) STR expansions from short-read data☆70Dec 6, 2025Updated 3 months ago
- useful command-line tools written to showcase hts-nim☆50Nov 10, 2020Updated 5 years ago
- High-level API for storing and querying sequence variant data☆20May 24, 2019Updated 6 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- ☆14Oct 29, 2021Updated 4 years ago
- Tissue-specific variant effect predictions on splicing☆42May 23, 2023Updated 2 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Feb 17, 2022Updated 4 years ago
- use the noise☆15Apr 15, 2020Updated 5 years ago
- VETA - A simple tool do evaluate variant predictors☆11Jun 17, 2024Updated last year
- Shiny ClinVar web server source code☆12Apr 29, 2019Updated 6 years ago
- Numerical Encoding for Human Genetic Variants☆42Jun 8, 2023Updated 2 years ago
- Example project for integrating igv.js and flask☆26May 17, 2025Updated 10 months ago
- Streaming relation (overlap, distance, KNN) of (any number of) sorted genomic interval sets. #golang☆47Jul 12, 2020Updated 5 years ago
- create a gemini-compatible database from a VCF☆55Jan 5, 2021Updated 5 years ago
- annotate a VCF with other VCFs/BEDs/tabixed files☆399Aug 30, 2025Updated 6 months ago
- Arioc: GPU-accelerated DNA short-read alignment☆70May 20, 2025Updated 10 months ago
- Website to analyze conflicting assertions in ClinVar☆19Updated this week
- a tool for processing .bed and .vcf files☆21Apr 25, 2017Updated 8 years ago
- Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation…☆34May 5, 2022Updated 3 years ago
- The friendly Computational App Boilerplate. Django + Vue.JS + Redis queues + NginX☆22Jun 10, 2021Updated 4 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 years ago
- Python package to query and analyse UniProt☆25Sep 8, 2020Updated 5 years ago
- A deletion finder through re-aligning the whole soft-clipping read☆12Jul 2, 2016Updated 9 years ago
- kASA - k-Mer Analysis of Sequences based on Amino acid-like encoding☆23Aug 23, 2023Updated 2 years ago
- structural variant calling and genotyping with existing tools, but, smoothly.☆264Jun 17, 2024Updated last year
- reference free variant assembly☆34Jul 14, 2023Updated 2 years ago
- Implicit Interval Tree with Interpolation Index☆42Jul 13, 2022Updated 3 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Jan 28, 2026Updated last month
- Genomic VCF to tab-separated values☆48Mar 9, 2023Updated 3 years ago
- Retrieve data in genomic intervals with a Python interface for tabix.☆82Aug 10, 2017Updated 8 years ago
- ☆18Jun 3, 2020Updated 5 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