RT Dissertation/Thesis
T1 Computational assessment of methods for inferring intratumoral genomic heterogeneity
T2 Evaluación computacional de métodos para inferir heterogeneidad genómica intratumoral
A1 Detering, Harald
K1 2409 Genética
K1 3207.13 Oncología
AB Next-generation sequencing (NGS) studies have uncovered high levels of intratumor genomic heterogeneity in most cancer types. In order to characterize this heterogeneity and to understand how it is generated across the tumor, several methods have been proposed to identify the different clones present in the sample and to decipher their evolutionary relationships from bulk-tissue NGS data. Yet the relative performance of these approaches has not been thoroughly benchmarked under a sensible evolutionary framework. In this Ph.D. thesis I will develop and implement an efficient computational model for the realistic simulation of a sample of tumoral genomes and use it to benchmark different clonal inference and variant calling approaches in tumor NGS data. In addition, I will also evaluate the performance of these strategies analyzing NGS data obtained from colorectal cancer and chronic lymphocytic leukemia tumor samples.
YR 2021
FD 2021-06-14
LK http://hdl.handle.net/11093/2254
UL http://hdl.handle.net/11093/2254
LA eng
DS Investigo
RD 09-dic-2024