Illumina / PlatinumGenomes

The Platinum Genomes Truthset
https://illumina.github.io/PlatinumGenomes
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hg38 reference genome for #5

Closed ksw9 closed 6 years ago

ksw9 commented 6 years ago

Hi, This is a great resource - I'm wondering which specific human reference genome you used for generating the sequence data NA12877_S1.bam and truth set pg2017/hg38/small_variants/NA12877/NA12877.vcf.gz so that we can get the appropriate ref genome to make best use of these tools?

Thank you!

The VCF file lists the genome here but I'm wondering which publicly available version this is. /illumina/sync/igenomes/Homo_sapiens/NCBI/GRCh38Decoy/Sequence/WholeGenomeFasta/genome.fa

blmoore commented 6 years ago

It's available through illumina's igenomes: http://emea.support.illumina.com/sequencing/sequencing_software/igenome.html

There's also this quite good (unofficial) resource: https://ewels.github.io/AWS-iGenomes/

ksw9 commented 6 years ago

Got it, thank you!