National Cancer Institute (NCI) Primary Human Melanocyte QTL Study

In order to create a melanocyte-specific eQTL resource, we obtained primary human melanocyte cultures isolated from foreskin of 106 healthy newborn males predominantly of European descent. Melanocytes were cultured in lot-matched culture medium in randomized batches to minimize variability that could be introduced by culturing conditions. RNA sequencing and direct SNP genotyping of these samples produced an average of ~87.9 million reads (paired-end, stranded, 126bps), and ~713,000 SNP genotypes, respectively. In addition to RNAseq and genotyping data, this submission contains pre- analyzed data, including significant eGenes as well as all nominally-significant SNP-gene pairs as presented in Zhang et al., 2018, Genome Research.

• Study Design:
  • Methods
• Study Type:
  • eQTL
• Total number of consented subjects: 106
• Subject Sample Telemetry Report (SSTR)

• BioSample

All samples are male based on the tissue of origin (neonatal foreskin) of melanocyte cultures.6

• Primary Phenotype: Melanocytes

• Principal Investigator
  • Kevin M. Brown, PhD. Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Institutes of Health, Bethesda, MD, USA.
• Co-Principal Inestigator
  • William J. Pavan, PhD. Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
• Funding Source
  • National Cancer Institute Intramural Research Program. National Health Institute, Bethesda, MD, USA.
  • NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute. National Institutes of Health, Bethesda, MD, USA.