Our CArdiac REsearch Genetics (CARREG) cohort comprises more than1500 cases with parents available in more than 600, encompassing the most common sporadic and isolated cardiac defects.Despite non Mendelian inheritance, the heritability of congenital heart defect (CHD) is high. A number of arguments favour the alteration of non-coding genome. Whole genome sequence is thus a reasonable approach, provided that significant series of cases is studied, with solid phenotype and endophenotype preliminary analyses. We propose a pilot study with whole genome sequence of 20 trios of CHD cases (30X coverage across 90% of the genome/ 210G total / 26flow cells).
Genomic DNA has already been extracted and quality-certified.
BioInformatic analyses will be performed at the Paris Descartes and Imagine Institute platforms.
Downstream studies will be performed onsite at Imagine: i) bioinformatics studies for genome alignment and deciphering non-coding variants,
ii) further genotyping, segregation and replication analyses, as well as iii) functional studies in the Heart Morphogenesis laboratory.