You are here:

Introduction | Reference Genomes

Reference Genomes

The following reference genomes are available for alignment:

• Homo sapiens (UCSC hg19 PAR-masked)

The human reference genome has pseudoautosomal regions (PAR) masked, which means that the homologous regions of the X and Y chromosomes are masked to Ns to avoid missmapping of reads.

• Homo sapiens (Ensembl GRCh37 PAR-masked)
• Homo sapiens (NCBI GRCh38 PAR-masked with decoys hs38d1)

The human reference genome has pseudoautosomal regions (PAR) masked and includes versions of autosomes, allosomes, and mitochondria. The reference genome GRCh38 also includes unplaced, unlocalized, and decoy sequences, and the Epstein-Barr virus (EBV).

For Research Use Only. Not for use in diagnostic procedures. 

©2017 Illumina, Inc. All rights reserved.