High-resolution arrayCGH platform makes it possible to detect small gains and losses which previously could not be measured. However, current CNV detection tools fitted to early low-resolution data are not applicable to larger high-resolution data. When CNV detection tools are applied to high-resolution data, they suffer from high false-positives, which increases validation cost. Existing CNV d...

Copy number data (arrayCGH or SNP) can be used to identify genomic regions (Regions Of Interest or ROI) showing gains or losses that are common across samples. Existing algorithms, MCR (Aguirre et. al. 2004), GISTIC(), or GTS(), for the identification of ROI rely on the probe level data, which may be a concern when array density increases (to 1 million for example) or when data generated by arr...

We describe two cases where clinical diagnoses were carried out (Rett syndrome-like and Nicolaides-Baraitser syndrome) with no identified mutation respectively in the CDKL5 and the SMARCA2 genes. Conversely a chromosomal microdeletion with contiguous deletion of a part of these two genes was found by arrayCGH in each corresponding case. The aim of this report is then to highlight the possible i...

The ground-breaking 24sure technology delivers aneuploidy screening of 24 chromosomes, within a 12 hour period, starting from single cells. 24sure technology uses a reliable and proven method for amplification of genomic DNA. Amplified samples are then co-hybridized to 24sure or 24sure+ slides—bacterial artificial chromosome (BAC) microarray platforms designed to enable robust and reliable call...

BACKGROUND The purpose of this study was to prove the feasibility of a longmer oligonucleotide microarray platform to profile gene copy number alterations in prostate cancer cell lines and to quickly indicate novel candidate genes, which may play a role in carcinogenesis. METHODS/RESULTS AND FINDINGS Genome-wide screening for regions of genetic gains and losses on nine prostate cancer cell li...

Current whole genome amplification (WGA) methods lead to amplification bias resulting in over- and under-represented regions in the genome. Nevertheless, certain WGA methods, such as SurePlex and subsequent arrayCGH analysis, make it possible to detect copy number alterations (CNAs) at a 10 Mb resolution. A more uniform WGA combined with massive parallel sequencing (MPS), however, could allow d...

AIMS Chronic lymphocytic leukemia (CLL) is the most common adult leukemia with a very heterogeneous course. Progress in molecular genetic characterization of CLL has confirmed the prognostic role of unbalanced chromosomal abnormalities currently defined by molecular cytogenetic methods: conventional karyotyping and FISH. However, a significant percentage of genomic abnormalities escapes routine...