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EGAS00001000065-sc-20130520 - samples

ABSTRACT: Population based sequencing of whole genomes of Crohn's disease patients.

PROVIDER: EGAD00001000401 | EGA |

REPOSITORIES: EGA

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Whole genome sequencing of Crohn s disease patients

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EGAS00001000060-sc-20130520 - samples

Project description:In 2009 we identified a four-generation family with over 700 members and 41 affected with Crohn's disease (CD). At the time we sequenced the exome of 6 affected individuals but did not identify any coding variants which appear to explain the high prevalence of disease. Since then we have collected DNA from a large number of additional family members, genotyped linkage arrays on the entire family to refine genomic regions shared by identity by descent and genotyped affected and unaffected members at known CD risk loci identified by Genome Wide Association Studies (GWAS). These analyses have confirmed that a significant unexplained excess of disease remains after accounting for all known genetic factors, and that several regions of the genome are shared by a large fraction of affected individuals. We therefore perform whole genomes sequencing from 8 individuals which will allow us to impute the complete sequence of nearly all the members of the two largest and most severely affected branches of the family.

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Project description:The ENGAGE project is a FP7 funded EU project aiming to combine genetic and phenotype information from European population based cohorts. In this sub-project we aim to do whole exome sequencing of individuals selected from Health 2000 and FINRISK cohorts. Individuals have been selected based on their metabolic trait phenotypes

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Project description:Organoids grown from intestinal crypts of controls and patients with Crohn's disease were sub-cultured at least 6 passages. Single cell RNA sequencing was performed for the paired TNF-free and -treated control and Crohn's organoids.

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