Code associated with 2019 manuscript entitled "Transcript expression-aware annotation improves rare variant discovery and interpretation"
☆34May 5, 2022Updated 4 years ago
Alternatives and similar repositories for tx_annotation
Users that are interested in tx_annotation are comparing it to the libraries listed below. We may earn a commission when you buy through links labeled 'Ad' on this page.
Sorting:
- Fast and scalable variant annotation tool☆30May 1, 2022Updated 4 years ago
- Shiny ClinVar web server source code☆12Apr 29, 2019Updated 7 years ago
- A small repo for storing the code for making the files and html for CCRs.☆22Oct 22, 2019Updated 6 years ago
- Interactive table from gemini output☆10Mar 5, 2019Updated 7 years ago
- ☆24Jul 29, 2025Updated 11 months ago
- Managed hosting for WordPress and PHP on Cloudways • AdManaged hosting for WordPress, Magento, Laravel, or PHP apps, on multiple cloud providers. Deploy in minutes on Cloudways by DigitalOcean.
- Gene Prediction using MAKER, CEGMA, SNAP, GENEMARK & AUGUSTUS☆10Jul 20, 2017Updated 9 years ago
- ☆40Jul 3, 2025Updated last year
- Calling deletions using deep convolutional neural☆26Feb 12, 2020Updated 6 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Aug 18, 2020Updated 5 years ago
- Detection and Visualization of Exon-Level Copy Number Variants in Targeted Next Generation Sequencing Data☆18Nov 26, 2021Updated 4 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆22Mar 25, 2022Updated 4 years ago
- Method for detecting STR expansions from short-read sequencing data☆63Dec 15, 2021Updated 4 years ago
- NGS DNA best practice pipeline for Illumina sequencing - alignment, variant calling, annotation and QC☆18Aug 22, 2025Updated 10 months ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Feb 20, 2026Updated 5 months ago
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- General Use Scripts and Helper functions☆16Mar 29, 2018Updated 8 years ago
- ☆18Jun 3, 2020Updated 6 years ago
- This is a basic repository with all the scripts necessary to reconstruct the data analysis from our work on the 200 Genomes☆12Aug 31, 2018Updated 7 years ago
- Cool Bioinformatics Scripts☆12May 21, 2024Updated 2 years ago
- LIkelihood Ratio Interpretation of Clinical AbnormaLities☆44Jun 18, 2026Updated last month
- ☆26Feb 15, 2018Updated 8 years ago
- GenomeTools: Scripts and Classes for Working with Genomic Data☆12Jun 7, 2018Updated 8 years ago
- Python Scripts for Bioinformatics☆15Apr 24, 2024Updated 2 years ago
- Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …☆17Aug 9, 2018Updated 7 years ago
- AI Agents on DigitalOcean Gradient AI Platform • AdBuild production-ready AI agents using customizable tools or access multiple LLMs through a single endpoint. Create custom knowledge bases or connect external data.
- WGS Pipeline☆13Jan 19, 2018Updated 8 years ago
- ☆12Nov 1, 2022Updated 3 years ago
- A set of R functions that help faciliate a lot of tedious processing☆19Aug 31, 2018Updated 7 years ago
- Prioritize structural variants based on CADD scores☆29May 7, 2020Updated 6 years ago
- Exposing public genomics data via computable and searchable metadata☆13Jul 9, 2024Updated 2 years ago
- Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat☆42Apr 22, 2026Updated 2 months ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 8 years ago
- ☆12Feb 19, 2021Updated 5 years ago
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆18Mar 10, 2022Updated 4 years ago
- Deploy on Railway without the complexity - Free Credits Offer • AdConnect your repo and Railway handles the rest with instant previews. Quickly provision container image services, databases, and storage volumes.
- Code used to process and analyze structural variants and short tandem repeat variants profiled in 719 deeply sequenced whole genomes as p…☆11Jun 25, 2019Updated 7 years ago
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- ☆29Sep 23, 2019Updated 6 years ago
- A Tool to Annotate and Prioritize Exome Variants☆260Jul 13, 2026Updated last week
- Tissue-specific variant effect predictions on splicing☆44May 23, 2023Updated 3 years ago
- List of gene lists for genomic analyses.☆228Jun 24, 2022Updated 4 years ago
- OUTRIDER: OUTlier in RNA-seq fInDER is an R-based framework to find aberrantly expressed genes in RNA-seq data☆58Feb 11, 2026Updated 5 months ago