SeqOne / variant_alert
Variant Alert!, a framework to monitor every significant alteration in variant classification and gene-disease association between two versions of ClinVar database.
☆14Updated 3 years ago
Alternatives and similar repositories for variant_alert:
Users that are interested in variant_alert are comparing it to the libraries listed below
- Generate an enhanced VCF files from ClinVar XML Full releases☆13Updated last year
- IndexTools is a toolkit for extremely fast NGS analysis based on index files.☆17Updated 2 years ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- v2.x of the microassembly based somatic variant caller☆14Updated last week
- A wrapper to Heng Li's kseq/readfq, an efficient FastQ/Fasta parser☆15Updated last year
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last week
- Hidden Markov Model based Copy number caller☆20Updated 3 months ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆50Updated 3 years ago
- Detects human contamination in bam files☆16Updated 4 years ago
- Bam Read Index - Extract alignments from a bam file by readname☆24Updated 9 months ago
- Index and query k-mer matrices in BGZF☆12Updated 6 years ago
- Haplotype phaser for next-generation sequencing data☆13Updated 3 years ago
- Structural variant pipeline☆17Updated 4 years ago
- Mapping-free variant caller for short-read Illumina data☆18Updated 4 years ago
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- Integrated Variant Caller☆17Updated 6 years ago
- Exploration of controlled loss of quality values for compressing CRAM files☆34Updated last year
- Experimental getopt, gzip reader, FASTA/Q parser and interval queries in nim-lang☆32Updated 4 years ago
- Reducing reference bias using multiple population reference genomes☆32Updated 8 months ago
- Split a BAM file by haplotype support☆16Updated 7 years ago
- Fast, accurate and simple to use command line tool for variant detection in NGS data.☆10Updated 5 years ago
- Unfazed by genomic variant phasing☆26Updated 8 months ago
- Wrapper for RTG's vcfeval; DEPRECATED!☆21Updated 8 years ago
- Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer☆21Updated 4 years ago
- Variant call adjudication☆16Updated 8 months ago
- ☆9Updated 2 years ago
- ☆11Updated last year
- ☆29Updated 2 years ago
- horizontal pileup☆16Updated 2 years ago
- Stupid Simple Structural Variant View☆25Updated 8 years ago