Abstrakt

From genotype and gene expression to phenotype: A brief review

Wen Zhang

With developments of human genetics and computational biology as well as bioinformatics technology during the past two decades, people know more and more about genotypes, transcriptomes and phenotypes as well as nexus between them. The relation between them has been discovered a lot due to the fact that more cohorts of data are available nowadays for investigators to survey. For instance, Genotype-Tissue Expression (GTEx) data sets [1] cover genotypes and expressions of around 500 hundred samples across more than 40 tissues. Genetic European Variation in Health and Disease (GEUVADIS) data[2] includes RNA-sequencing as well as genotype data of 1000 Genomes samples. Depression Genes and Networks (DGN)[3] contains data for 922 whole-blood samples. Common Mind Consortium (CMC) generates genotypic and transcriptomic data of ~500 samples from several institutes including Mount Sinai, Pittsburg University and University of Pennsylvania