The EN-TEx Resource for Personal Functional Genomics

ABSTRACT: An overall goal of functional genomics has been to measure the impact of variants on molecular endophenotypes (e.g. gene expression levels or the degree of TF binding) and relate this to organismal traits and disease phenotypes. However, all the experiments to date have been described relative to a generic reference genome, significantly hobbling their interpretation. Here, we describe a strategy for finding significant relationships between disease variation and genomic annotation via personal functional genomics, by performing personal genome sequencing and paired functional genomics experiments, on the same individual.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Spleen, Testis, Prostate Gland, Liver, Small Intestine

SUBMITTER: James Wright  

LAB HEAD: Jyoti Choudhary

PROVIDER: PXD022787 | Pride | 2024-05-22

REPOSITORIES: Pride