Eberle 2017, Platinum Genomes pedigree-validated NA12878 truth set (paper 1.2)
phalaena:study:PA-DS-eberle-2017-platinum
Eberle MA, Fritzilas E, Krusche P, Källberg M, Moore BL, Bekritsky MA, Iqbal Z, Chuang HY, Humphray SJ, Halpern AL, Kruglyak S, Margulies EH, McVean G, Bentley DR. A reference data set of 5.4 million phased human variants validated by genetic inheritance from sequencing a three-generation 17-member pedigree. Genome Res. 2017 Jan;27(1):157-164. doi:10.1101/gr.210500.116. pmid:27270107.
- kind
- study
- organism
- NCBITaxon:9606
- assay
- Illumina short-read WGS, paired-end
- status
- reviewed
- pubmed:27270107
- doi:10.1101/gr.210500.116
- ena.embl:ERR194147
- bioproject:PRJEB3381
- coriell:NA12878
View Eberle 2017, Platinum Genomes pedigree-validated NA12878 truth set (paper 1.2) on the Phalaena Wiki