rbundschuh / SMaSH
A tool for sample swap identification in high throughput sequencing studies
☆10Updated 2 months ago
Alternatives and similar repositories for SMaSH:
Users that are interested in SMaSH are comparing it to the libraries listed below
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 11 months ago
- ☆24Updated 9 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 2 months ago
- Third-generation fusion gene detection☆14Updated last year
- ☆12Updated 2 years ago
- Abismal is a mapper of FASTQ bisulfite-converted short reads (between 50 and 1000 bases) to a FASTA reference genome.☆18Updated 2 months ago
- Benchmarking of CNV calling tools☆18Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆29Updated 10 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 4 years ago
- ☆35Updated 2 years ago
- Tools for processing and analyzing structural variants.☆33Updated 9 years ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 2 months ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆21Updated 5 years ago
- BAMixChecker: A fast and efficient tool for sample matching checkup☆14Updated 2 years ago
- ☆20Updated 6 months ago
- ☆22Updated 4 months ago
- novoBreak: local assembly for breakpoint detection in cancer genomes☆26Updated 7 years ago
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 9 years ago
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆30Updated last year
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 6 years ago
- Long read to rMATS☆31Updated 2 years ago
- CNV Rapid Aberration Detection And Reporting☆12Updated 4 years ago
- curPrimers is a tool for trimming primer sequences from amplicon based NGS reads☆16Updated 5 years ago
- All-FIT - Allele-Frequency-based Imputation of Tumor Purity☆17Updated 5 years ago
- Identifying differentially methylated regions from MethylC-seq (bisulfite-sequencing) data☆27Updated last year
- ☆17Updated 3 weeks ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 9 months ago
- A new tool to infer sex from massively parallel sequencing data.☆16Updated 11 months ago
- ☆11Updated 2 years ago