SeqOne / clinvcfLinks
Generate an enhanced VCF files from ClinVar XML Full releases
☆15Updated 2 years ago
Alternatives and similar repositories for clinvcf
Users that are interested in clinvcf are comparing it to the libraries listed below
Sorting:
- Variant Alert!, a framework to monitor every significant alteration in variant classification and gene-disease association between two ve…☆14Updated 4 years ago
- Structural variant pipeline☆17Updated 5 years ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 3 years ago
- IndexTools is a toolkit for extremely fast NGS analysis based on index files.☆17Updated 3 years ago
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- v2.x of the microassembly based somatic variant caller☆23Updated 5 months ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆52Updated 4 years ago
- Tools to gather evidence for structural variation via breakpoint detection.☆19Updated 2 weeks ago
- Detects human contamination in bam files☆16Updated 5 years ago
- ☆13Updated 3 years ago
- Sample Contamination Estimate from VCF☆20Updated last year
- Experimental getopt, gzip reader, FASTA/Q parser and interval queries in nim-lang☆31Updated 5 years ago
- Reducing reference bias using multiple population reference genomes☆34Updated last year
- A wrapper to Heng Li's kseq/readfq, an efficient FastQ/Fasta parser☆15Updated 2 years ago
- Unfazed by genomic variant phasing☆27Updated last year
- VEP-like tool for sequence ontology and HGVS annotation of VCF files☆23Updated this week
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆18Updated 5 years ago
- Hidden Markov Model based Copy number caller☆20Updated 3 weeks ago
- Bam Read Index - Extract alignments from a bam file by readname☆28Updated last year
- Location of public benchmarking; primarily final results☆18Updated 10 months ago
- Samwell: a python package for using genomic files... well☆20Updated 3 years ago
- A python wrapper around SURVIVOR☆20Updated last year
- Haplotype phaser for next-generation sequencing data☆13Updated 3 years ago
- ☆16Updated 11 months ago
- drunk on perbase pileups and lua expressions☆19Updated last month
- Benchmark structural variant calls against a reference set☆18Updated last month
- Towards fast and accurate SNP genotyping from whole genome sequencing data for bedside diagnostics.☆22Updated 6 years ago
- Viola is a flexible and powerful python package designed specifically for analysis of genomic structural variant (SV) signatures.☆26Updated last year
- Structural Variation breakpoint discovery via adaptive learning☆16Updated 2 years ago
- Human mitochondrial variants annotation using HmtVar.☆18Updated 2 years ago