Getting poster data...
Daniel Alcaide, Masoud Zamani Esteki, Amin Ardeshirdavani, Yves Moreau, Thierry Voet, Jan Aerts (KU Leuven, Leuven, Belgium)The identification of the nature and origin of numerical and structural chromosome aberrations as well as the detection of genetic mosaicism within a DNA-sample of an individual with high accuracy are important factors for understanding the aetiology of phenotypes and genomic disorders. To this end, methods that can reveal haplotype-specific copy number alterations in constitutional and mosaic/chimaeric form are needed. Haplarithmisis is a genome analysis concept that reconstructs genome wide haplotype architectures as well as copy number of those haplotypes and reveals the segregational origin of those haplotypes by employing phased parental genotypes and deciphering SNP B-allele fractions (BAFs). This novel methodology enables to diagnose disease alleles genome wide, as well as numerical and structural chromosomal anomalies. In this project, we present a web-based platform that allows users to compute and explore the results of haplarithmisis process. The visual output illustrates simultaneously haplotype blocks, the paternal and maternal origin, relative copy number (logR values), SNP BAFs, and haplarithms across the entire genome. The interactivity by means of genome browser