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
- A wrapper to Heng Li's kseq/readfq, an efficient FastQ/Fasta parser☆15Updated last year
- 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☆20Updated this week
- Ximmer is a system for CNV calling on exome and targeted genomic sequencing☆19Updated last month
- Samwell: a python package for using genomic files... well☆20Updated 2 years ago
- Unfazed by genomic variant phasing☆26Updated 9 months ago
- Detects human contamination in bam files☆16Updated 4 years ago
- Split a BAM file by haplotype support☆16Updated 7 years ago
- Accurate, Lightweight Clustering of de novo Transcriptomes using Fragment Equivalence Classes☆31Updated 9 months ago
- Hidden Markov Model based Copy number caller☆20Updated 5 months ago
- ☆19Updated 8 years ago
- An ultra fast and accurate paired-end adapter trimmer that needs no a priori adapter sequences.☆22Updated 4 years ago
- ☆12Updated 3 years ago
- ☆11Updated last year
- SAMsift: advanced filtering and tagging of SAM/BAM alignments using Python expressions.☆23Updated 7 years ago
- Structural variant pipeline☆17Updated 4 years ago
- seqcover allows users to view coverage for hundreds of genes and dozens of samples☆50Updated 3 years ago
- RCK: Reconstruction of clone- and haplotype-specific Cancer Karyotypes☆17Updated 4 years ago
- Sample Contamination Estimate from VCF☆19Updated 4 months ago
- Index and query k-mer matrices in BGZF☆12Updated 6 years ago
- Exploration of controlled loss of quality values for compressing CRAM files☆34Updated 2 years ago
- Bam Read Index - Extract alignments from a bam file by readname☆25Updated 11 months ago
- Reducing reference bias using multiple population reference genomes☆32Updated 9 months ago
- extract SV signal from a BAM☆11Updated 6 years ago
- ⛰ covtobed | Convert the coverage track from a BAM file into a BED file☆43Updated 2 years ago
- Haplotype phaser for next-generation sequencing data☆13Updated 3 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆56Updated 3 years ago
- Benchmark structural variant calls against a reference set☆17Updated 5 months ago