1000 Genomes Tools

Use when working with slivar — slivar — fast VCF/BCF variant filtering

2 shared topics • 3 shared operations

SnpSift -- Java-based toolset for filtering, annotating, and manipulating annotated VCF files from SnpEff or other variant callers. Provides expression-based filtering (filter), database annotation wi

2 shared topics • 3 shared operations

Strelka2 — fast and accurate small variant caller for germline and somatic analysis. Detects SNVs and indels (up to ~49 bp) from mapped paired-end sequencing reads with tiered haplotype modeling, adap

2 shared topics • 3 shared operations

GATK (Genome Analysis Toolkit) — the industry-standard framework for variant discovery in high-throughput sequencing data. Covers the gatk command-line wrapper, Java/JVM tuning, resource bundle manage

2 shared topics • 2 shared operations

Nirvana — Clinical-grade genomic variant annotation tool by Illumina that processes VCF files and outputs structured JSON with transcript consequences, population frequencies, pathogenicity scores, an

2 shared topics • 2 shared operations