varfish-org / mehari
VEP-like tool for sequence ontology and HGVS annotation of VCF files
☆19Updated this week
Alternatives and similar repositories for mehari:
Users that are interested in mehari are comparing it to the libraries listed below
- Wrapper over rust-htslib for building collections of BAM records for testing.☆11Updated last year
- A bioinformatics tool written in Rust to find palindromic sequences in DNA☆34Updated last month
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- A Rust library for storing generic genomic data by sorted chromosome name☆17Updated 6 months ago
- process any file in tabular format. Fasta/fastq/GTF/GFF/VCF/SAM/BED☆22Updated last month
- overlapping bases in read-pairs from a fragment indicate accuracy and reveal error-prone sites☆33Updated last month
- drunk on perbase pileups and lua expressions☆17Updated last year
- a lexicographically-based GTF/GFF sorter☆33Updated 7 months ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated last week
- Hidden Markov Model based Copy number caller☆20Updated 5 months ago
- ☆29Updated 2 years ago
- ☆32Updated 2 years ago
- Variant call adjudication☆16Updated 9 months ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆25Updated last week
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆50Updated 3 years ago
- Kmer Analysis of Pileups for Genotyping☆21Updated last month
- Sample Contamination Estimate from VCF☆19Updated 4 months ago
- Lightweight mosaic/somatic SV caller for long reads (WIP)☆29Updated 3 months ago
- Structural variant (SV) analysis tools☆35Updated 8 months ago
- Location of public benchmarking; primarily final results☆18Updated last month
- ☆22Updated 3 months ago
- Fast sequencing data quality metrics☆26Updated this week
- A long-read analysis toolbox for cancer and population genomics☆22Updated last month
- convert reads from repeated measures of same piece of DNA into spaced matricies for deep learners.☆14Updated last year
- A lightweight library for working with PAF (Pairwise mApping Format) files☆31Updated 2 years ago
- Bam Read Index - Extract alignments from a bam file by readname☆25Updated 11 months ago
- A (very) fast program for getting statistics about a fastq file, the way I need them, written in Rust☆30Updated 2 months ago
- Population-wide Deletion Calling☆35Updated 6 months ago
- Given a set of kmers (fasta format) and a set of sequences (fasta format), this tool will extract the sequences containing the kmers.☆21Updated last year
- URMAP ultra-fast read mapper☆38Updated 4 years ago