DNA Variation

DNA Variation

Genotyping

The core offers consulting, analysis, management, and interpretation of candidate gene and genome-wide high-density DNA genotyping data, including:

  • Study design for genotype-phenotype association studies
  • Data management and quality control
  • PCA for population stratification control
  • Analysis, interpretation, visualization
  • Manuscript preparation
  • Grant support (compliance with NIH data sharing policies, methodology for data management, design, analysis, and interpretation)
  • Acquisition of publicly available data (dbGaP)

 

Next Generation Sequencing

The core offers consulting, analysis, management, and interpretation of whole-exome and whole-genome experiments using next-generation DNA sequencing:

  • Alignment to a reference genome
  • Calibration of quality scores and duplicate read removal
  • Variant calling
  • Variant annotation
  • SNP effect prediction
  • De novo assembly
  • Any of the applicable analysis, interpretation, and visualization services described above for genotyping data.