Platinum Genomes release for hg38

[Fritzilas, Epameinondas]

Dear colleagues,

We would like to inform you that, as part of Illumina’s Platinum Genomes project, we have released a set of high-confidence variant calls for NA12877 and NA12878, for the hg38 build of the human reference.

The reference sequence we have aligned against, is the concatenation of the following two components:

1. GRCh38 sequence without alt haplotypes, downloaded from: ftp://ftp.ncbi.nih.gov/genbank/genomes/Eukaryotes/vertebrates_mammals/Homo_sapiens/GRCh38/seqs_for_alignment_pipelines/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz

2. hs38d1 decoy sequence, downloaded from: ftp://ftp.ncbi.nlm.nih.gov/genomes/all/GCA_000786075.2_hs38d1/GCA_000786075.2_hs38d1_genomic.fna.gz

High-confidence variant calls were derived for the autosomes and chrX, using the process described in the documentation.

 

On a related note, for those of you who have been using the Platinum Genomes calls on hg19: We have released a newer version tagged as hg19/8.0.1. This contains some cleanups and improvements compared to the previous version hg19/7.0.

 

The VCF files and the documentation, are freely available at our website: http://www.illumina.com/platinumgenomes

Kind regards

 

Nondas Fritzilas