RNA-seq for Mendelian disease diagnostics: A hands-on tutorial through bioinformatic tools and workflows
☆17Mar 7, 2022Updated 3 years ago
Alternatives and similar repositories for RNAseq-ASHG
Users that are interested in RNAseq-ASHG are comparing it to the libraries listed below
Sorting:
- A python wrapper around SURVIVOR☆20Feb 15, 2024Updated 2 years ago
- nanoNOMe (Nucleosome Occupancy and Methylome nanopore sequencing) Analysis☆20Nov 18, 2022Updated 3 years ago
- Variational Auto Encoders for learning binding signatures of transcription factors☆14Mar 14, 2024Updated last year
- amplicon/smMIP mapping and analysis pipeline☆11Dec 8, 2022Updated 3 years ago
- Scripts for identifying sites with differential error rates in mapped nanopore DRS data☆11Nov 27, 2020Updated 5 years ago
- Alignment and variant-calling pipeline for Illumina HIV sequences.☆11May 19, 2020Updated 5 years ago
- Generate HTML report for a set of genomic regions or DESeq2/edgeR results☆10Jan 14, 2025Updated last year
- Parakit is a tool to analyze the RCCX module, which contain the CYP21A2 gene, using long sequencing reads.☆14Aug 25, 2025Updated 6 months ago
- R package for distinguishing cells from background barcodes in droplet-based single-cell RNA-seq data☆11Apr 19, 2023Updated 2 years ago
- Clinical Variant Annotation Pipeline☆10Apr 21, 2020Updated 5 years ago
- This repository contains the source code of the revised version of MutPanning. MutPanning is publicly available under the BSD3-Clause ope…☆13Nov 12, 2019Updated 6 years ago
- Unfazed by genomic variant phasing☆27May 26, 2024Updated last year
- Annotate models of genetic inheritance patterns in variant files (vcf files)☆86Jan 5, 2026Updated last month
- DTU analysis tool inspired by llamas☆12Sep 28, 2025Updated 5 months ago
- Beginning of a textbook for shell skills for bioinformatics☆11Oct 7, 2025Updated 4 months ago
- UVC, a very accurate small-variant caller (https://doi.org/10.1093/bib/bbab458)☆14May 18, 2025Updated 9 months ago
- Coronavirus (SARS-Cov-2) sequencing analysis☆10Oct 5, 2021Updated 4 years ago
- Rareservoir Database Tools☆16Mar 13, 2023Updated 2 years ago
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆13Apr 9, 2022Updated 3 years ago
- VEP Plugin to annotate high-impact five prime UTR variants☆28Aug 23, 2024Updated last year
- ☆15Oct 10, 2023Updated 2 years ago
- As part of the COVID-19 Host Genetics Global initative, this repo serves to corroborate sample scripts for sequencing QC.☆12Jul 30, 2020Updated 5 years ago
- customizable robust Independent Component Analysis (ICA)☆12Sep 16, 2024Updated last year
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Apr 30, 2024Updated last year
- MEM mapper prototype☆13Nov 28, 2020Updated 5 years ago
- Fast and scalable variant annotation tool☆30May 1, 2022Updated 3 years ago
- R interface to GenBank/GenPept files☆14Jan 12, 2021Updated 5 years ago
- PAnno is a Pharmacogenomics Annotation tool for clinical genomic testing.☆16Dec 28, 2022Updated 3 years ago
- Clair3-Trio: variant calling in trio using Nanopore long-reads☆16Apr 18, 2024Updated last year
- Prioritizing Copy Number Variants (CNV) using Phenotype and Gene Functional Similarity☆17Mar 10, 2022Updated 3 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- Method for Identifying Novel Transcripts and Isoforms using Equivalence classes, in cancer and rare disease.☆37Jul 1, 2024Updated last year
- ☆13Feb 16, 2019Updated 7 years ago
- Detects human contamination in bam files☆16Sep 10, 2020Updated 5 years ago
- Javascript package for embedding sequence logos☆17Jun 16, 2025Updated 8 months ago
- ☆16Jan 10, 2022Updated 4 years ago
- R package specialized in HLA typing clustering and visualization based on specific similarity metrics☆14Nov 21, 2019Updated 6 years ago
- ☆16Jan 15, 2025Updated last year
- Isoform co-usage networks from single-cell RNA-seq data☆16Feb 21, 2024Updated 2 years ago