Copy number variations of colorectal cancer by whole exome sequencing data

Colorectal cancer (CRC) is the third most common cancer and the fourth leading cause of cancer death worldwide. About 85% of the cases of CRC are known to have chromosomal instability, an allelic imbalance at several chromosomal loci, and chromosome amplification and translocation. The aim of this study is to determine the recurrent copy number variant (CNV) regions present in stage II of CRC through whole exome sequencing, a rapidly developing targeted next-generation sequencing (NGS) technology that provides an accurate alternative approach for accessing genomic variations. 42 normal-tumor paired samples were sequenced by Illumina Genome Analyzer. Data was analyzed with Varscan2 and segmentation was performed with R package R-GADA. Summary of the segments across all samples was performed and the result was overlapped with DEG data of the same samples from a previous study in the group1. Major and more recurrent segments of CNV were: gain of chromosome 7pq(13%), 13q(31%) and 20q(75%) and loss of 8p(25%), 17p(23%), and 18pq(27%). This results are coincident with the known literature of CNV in CRC or other cancers, but our methodology should be validated by array comparative genomic hybridisation (aCGH) profiling, which is currently the gold standard for genetic diagnosis of CNV.

Copy&Paste façanes procedurals per skylineEngine

L’objectiu d’aquest projecte és el desenvolupament d’una eina d’alt nivell pel modelatged’edificis procedurals que permeti copiar i enganxar parts arbitràries d’un edifici en un altre.Els edificis procedurals es basen en l’execució iterativa d’un conjunt de regles, que es podenrepresentar per un graf d’operacions. Per tant, l’operació de copiar i enganxar es centra enla reescriptura dels grafs de regles amb l’objectiu de modificar els edificis per tal de duraquesta tasca. Donat que es treballa sobre la plataforma de recerca anomenada skylineEngine,que s’executa sobre el programari Houdini 3D, l’aplicació també estarà implementada a sobred’aquesta plataforma