The array and short read whole genome sequencing (srWGS) variants are called against the hg38/GRCh38 reference. Below are locations of the public reference and auxiliary files:
- FASTA: gs://genomics-public-data/references/hg38/v0/Homo_sapiens_assembly38.fasta
- FAI: gs://genomics-public-data/references/hg38/v0/Homo_sapiens_assembly38.fasta.fai
- DICT: gs://genomics-public-data/references/hg38/v0/Homo_sapiens_assembly38.dict
The long read whole genome sequencing (lrWGS) variants are called against two references. grch38_noalt corresponds to the GRCh38 reference with no alternate sequences. T2Tv2.0 corresponds to the T2T-CHM13v2.0 reference, with the EBV contig added from the grch28_noalt reference.
|srWGS SNP & Indel
Note: variants are called originally with hg19 reference but they are lifted over before release on the researcher workbench
For more detailed information regarding the the genomic data, we recommend the following articles: