Despite new sequencing technologies and other methods of genome analysis, congenital malformations remain without a molecular diagnosis in a majority of individuals. The aim is to increase the number of diagnosable cases by using novel technologies (HiC) for the detection of structural variants and abnormal chromatin interactions.
While growing fibroblasts from patients with congenital malformations, cells will be subjected to HiC analysis to investigate their genome-wide interaction profile. To determine the variability of HiC in fibroblasts samples HiC will be performed in a sufficient number of control cell lines. The data will be bioinformatically analysed and particular loci modelled together with WP4. Data will be compared. Variants will be identified based on whole genome sequencing of patient samples. Detected abnormalities that are considered potentially pathogenic will be tested in mouse models.
A new dimension of analysis that will be able to detect structural variants at an unprecedented sensitivity and accuracy. In addition, detection of abnormal chromatin interactions either due to structural variants or other causes that may explain the disease.
CNAG-CRG, Spain (6 months):
Data analysis and modelling.
CNRS, France (3 months):
Enrolment in doctoral programs
PhD in Biology for the Freie Universität Berlin (FU)
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