Liftoff.bio illustration — cat genomics

BCFtools

Call, filter and manipulate genomic variants (VCF/BCF)

BCFtools is the companion to SAMtools for variant data. It calls, filters, normalises, merges and annotates variants in VCF/BCF format.

Common commands

1bcftools mpileup -f ref.fa sample.bam | bcftools call -mv -Oz -o calls.vcf.gz
2bcftools view -i 'QUAL>30 && INFO/DP>10' calls.vcf.gz
3bcftools norm -f ref.fa -m- calls.vcf.gz -Oz -o norm.vcf.gz

Related tools

Liftoff.bio illustration — cat genomics
Open source

Genomics & Sequencing

SAMtools

The standard toolkit for SAM/BAM/CRAM alignment files

Command line
Liftoff.bio illustration — cat genomics
Open source

Genomics & Sequencing

GATK

Broad Institute toolkit for variant discovery

Command line
Liftoff.bio illustration — cat databases
Free

Public Databases

Ensembl

Genome annotation and comparative genomics

Web appREST APIDataset