Broad Technology Labs

The epigenome is a collection of physical “amendments” to DNA—things like proteins around which the double helix is wrapped like thread on a spool and chemical tags on the DNA of specific genes that can make them hard to access. This collection of epigenetic factors works together to help give each cell in the body its specific identity by regulating which genes are expressed—it’s a big reason why skin cells don’t get confused with blood cells and why bone cells are full of calcium instead of fat. The epigenome guides differentiation, the process by which embryonic stem cells (ESCs) go from being pluripotent—having the ability to turn into almost any cell type in the body—to taking on one specific identity. But in order for differentiation to happen, the products of a handful of pluripotency genes, which work to maintain the pre-differentiated state of a cell, must be overcome.

PLINK is a comprehensive toolset for statistical analysis in whole-genome association studies.