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North American Brain Expression Consortium (NABEC) Exome Sequencing

A fundamental challenge in the post-genome era is to understand and annotate the consequences of genetic variation, particularly within the context of human tissues. We describe a set of integrated experiments designed to investigate the effects of common genetic variability on mRNA expression distinct human brain regions. We show that brain tissues may be readily distinguished based on expression profile. We find an abundance of genetic cis regulation mRNA expression. We observe that the largest magnitude effects occur across distinct brain regions. We believe these data, which we have made publicly available, will be useful in understanding the biological effects of genetic variation.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001002886 Illumina HiSeq 2000 298
Publications Citations
Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.
PLoS Genet 6: 2010 e1000952
Distinct DNA methylation changes highly correlated with chronological age in the human brain.
Hum Mol Genet 20: 2011 1164-1172
Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.
Neurobiol Dis 47: 2012 20-28
Age-associated changes in gene expression in human brain and isolated neurons.
Neurobiol Aging 34: 2013 1199-1209
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing.
Genome Biol 18: 2017 22
Assessing the relationship between monoallelic PRKN mutations and Parkinson's risk.
Hum Mol Genet 30: 2021 78-86