Summary and timescale

As part of an established colaboration between the University of Bristol and the Sanger Institute we have collected whole genome data on gene expression, SNP and copy number variation in 1,000 individuals belonging to the ALSPAC population cohort. We propose to use these data sets to study the relationships between genetic variation, gene expression regulation and complex traits.

We seek permission to obtain the three data sets generated throught the ALSPAC - Sanger Institutte collaboration from the 1,000 densely-phenotyped individuals namely

- intensity data of the CNV array used to profile the above individuals

- intensity data of the 48,000 transcripts assayed using the Illumina Expression BeadChip platform. The data will be normalised and gene expression levels will be determinrd as part of the down stream analyses.

- genotypes of the 317K or 660K SNP arrays

We will associate gene expression data against CNVs and SNPs to identify genetic variants that influence gene regulation in both cis and trans, and characterise the nature of these associations. We will further associate these data sets with the 20 primary phenotypes outlined in Table 1 with

(i) expression levels of 48,000 transcripts

(ii) SNPs and CNVs

We would like to request at this stage

Sex Child

Body weight Child Clinic latest age

Height Child '' latest age

Expression array data (intensities) Child

Genotype data (317K or 660K array) Child

CNV array data (intensities)