缩略语

BWA

Burrows-Wheeler Aligner

GATK

Genome Analysis Tool Kit

VCF

Variant Call Format

GVCF

Genomic Variant Call Format

SAM

Sequence Alignment/Map

BAM

Binary compressed SAM

BCF

Binary compressed variant Call Format

BED

Browser Extensible Display

SNP

Single Nucleotide Polymorphisim

INDELs

INsertion-DELetions