26. august 2015

Methods within extensive mapping of the human genome

The list is annexed to the Guidelines on research projects involving extensive mapping of the human genome of the National Committee on Health Research Ethics.
  • Whole genome sequencing (WGS)
  • Whole exome sequencing (WES)
  • Total RNA sequencing, e.g. sequencing of RNA from human tumours
  • Genome-wide association studies (GWAS) with mapping of rare variants, e.g. Infinium Global Screening Array from Illumina (of potential predictive value to the research participant)
  • Epigenetic studies based on NGS methods with DNA sequencing of a large number of regions in the human genome

Methods that are not extensive mapping of the human genome:

  • Genome-wide association studies (GWAS) with SNP arrays with mapping of frequent variants
  • Targeted sequencing, by which the sequencing targets a limited number of defined genes
    • Epigenetic studies involving analysis not resulting in extensive sequencing data, e.g. the use of methylation assay, which examines a limited number of CpG sites in the human genome

Note: Projects that do not involve extensive mapping yet are likely to produce incidental findings can use the principles of the Guidelines on research projects involving extensive mapping of the human genome of the National Committee on Health Research Ethics. As an example, this could be relevant in targeted examinations of a very high number of genes, for example genes associated with cancer.