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.