rbundschuh / SMaSHLinks
A tool for sample swap identification in high throughput sequencing studies
☆10Updated 6 months ago
Alternatives and similar repositories for SMaSH
Users that are interested in SMaSH are comparing it to the libraries listed below
Sorting:
- Microsatellite instability (MSI) detection for cfDNA samples.☆19Updated 4 years ago
- ☆23Updated 9 months ago
- ☆37Updated 2 years ago
- Long read to rMATS☆32Updated 2 years ago
- This repo is be archived, these workflows are still housed housed in the GATK repository under the scripts directory. The workflows are a…☆22Updated 5 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated last month
- for visual evaluation of read support for structural variation☆54Updated last year
- Polyidus provides a framework to catch chimeric DNA sequences with a tale of python☆10Updated 2 years ago
- Fork from https://bitbucket.org/mcgranahanlab/lohhla/src, modified for MSKCC needs☆31Updated 2 years ago
- SMN1 copy-number and sequence variant analysis from next generation sequencing data☆23Updated 2 years ago
- Structural variant VCF annotation, duplicate removal and comparison☆33Updated 7 months ago
- Scripts and files used in the generation of the COLO829 somatic SV truthset.☆13Updated 3 years ago
- ☆44Updated last year
- Tools for processing and analyzing structural variants.☆33Updated 10 years ago
- ☆51Updated 6 years ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- ⛏ HLA predictions from NGS shotgun data☆54Updated 3 months ago
- ☆37Updated 6 years ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆29Updated last year
- A comprehensive toolkit for mutational signature analysis☆41Updated last year
- LongcallR is a SNP caller for single molecule long-read RNA-seq data☆66Updated 2 weeks ago
- Python scripts for matching output of Pacific Biosciences IsoSeq RNA-seq pipeline to an annotation file.☆23Updated 10 years ago
- A variant caller for the GBA gene using WGS data☆22Updated last year
- SpecHLA reconstructs entire diploid sequences of HLA genes and infers LOH events. It supports HLA-A, -B, -C, -DPA1, -DPB1, -DQA1, -DQB1, …☆50Updated last week
- Immuological gene typing and annotation for genome assembly☆38Updated 6 months ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆33Updated 2 years ago
- Interpretable prioritization of splice variants in diagnostic next-generation sequencing☆18Updated last year
- R API for browsing, analyzing, and manipulating reference-aligned genome graphs in a GenomicRanges framework☆41Updated this week
- Detection of Circular RNA and Fusions from RNA-Seq☆32Updated 7 years ago
- Code and custom scripts relevant to gnomAD-SV (Collins*, Brand*, et al., 2020)☆36Updated 5 years ago