NA12878 Platinum Genomes, Illumina HiSeq 2000 PE100 subset (paper 1.2)
phalaena:sample:PA-S-1-2-NA12878
NA12878 (Coriell CEU female, the Platinum Genomes index sample), one Illumina HiSeq 2000 PE100 run subset to about 0.5x coverage (~3 GB compressed; MANIFEST.json slot 1.2 notes). NA12878 is the canonical truth-set sample for family-based phasing: Platinum Genomes calls were validated against pedigree-consistent inheritance in a 17-member CEPH family. We use the subset as the second short-read verification slot, exercising the same call path as paper 1.1 (GIAB HG002) against a different individual and library chemistry. The run that consumed this sample (PA-R-1-2-wave2-2026-05-09) is the slot that validated the SnpSift ClinVar container fix (validation finding #23) end-to-end on the GPU stack.
- kind
- sample
- organism
- Homo sapiens
- status
- reviewed
- ena.embl:ERR194147
- bioproject:PRJEB3381
- ncbitaxon:9606
- coriell:NA12878
View NA12878 Platinum Genomes, Illumina HiSeq 2000 PE100 subset (paper 1.2) on the Phalaena Wiki