grailbio / doppelmark
NGS duplicate marking
☆19Updated 3 years ago
Alternatives and similar repositories for doppelmark:
Users that are interested in doppelmark are comparing it to the libraries listed below
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆31Updated last week
- (WIP) best-practices workflow for rare disease☆60Updated 7 months ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- drunk on perbase pileups and lua expressions☆17Updated last year
- Calib clusters barcode tagged paired-end reads based on their barcode and sequence similarity.☆38Updated last year
- SQUID detects both fusion-gene and non-fusion-gene structural variations from RNA-seq data☆42Updated 2 years ago
- Accucopy is a computational method that infers Allele-Specific Copy Number alterations from low-coverage low-purity tumor sequencing data…☆15Updated 11 months ago
- Long-read splice alignment with high accuracy☆61Updated 4 months ago
- Structural Variation and fusion detection using targeted sequencing data from circulating cell free DNA☆27Updated 8 months ago
- A set of tools to annotate VCF files with expression and readcount data☆29Updated 5 months ago
- Symmetric DUST for finding low-complexity regions in DNA sequences☆34Updated last year
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated 6 months ago
- BigWig manpulation tools using libBigWig and htslib☆29Updated 6 months ago
- Prioritize structural variants based on CADD scores☆28Updated 4 years ago
- Pipeline for identifying viral integration and fusion mRNA reads from NGS data. Manuscript is currently in preparation.☆27Updated 3 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 years ago
- ☆29Updated 2 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- Deep learning-based structural variant filtering method☆38Updated last year
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- Location of public benchmarking; primarily final results☆18Updated this week
- Abismal is a mapper of FASTQ bisulfite-converted short reads (between 50 and 1000 bases) to a FASTA reference genome.☆17Updated 3 months ago
- Sentieon DNAscope + Machine Learning Model☆12Updated 3 years ago
- CADD-SV – a framework to score the effect of structural variants☆14Updated 3 weeks ago
- v2.x of the microassembly based somatic variant caller☆14Updated last week
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆27Updated 7 months ago
- Reproducibility workflow for Gigante et al., 2018: Using long-read sequencing to detect imprinted DNA methylation☆23Updated 5 years ago
- Simplify snpEff annotations for interesting cases☆21Updated 6 years ago
- A (very) fast program for getting statistics about a fastq file, the way I need them, written in Rust☆30Updated last month
- Mapping-free software for fishing relevant reads in an RNA-Seq sample☆18Updated 4 years ago