Please use this identifier to cite or link to this item: https://hdl.handle.net/10316/106713
Title: Probability distribution of copy number alterations along the genome: an algorithm to distinguish different tumour profiles
Authors: Esteves, Luísa 
Caramelo, Francisco 
Ribeiro, Ilda Patrícia 
Carreira, Isabel M. 
Melo, Joana Barbosa de 
Issue Date: 10-Sep-2020
Publisher: Springer Nature
metadata.degois.publication.title: Scientific Reports
metadata.degois.publication.volume: 10
metadata.degois.publication.issue: 1
Abstract: Copy number alterations (CNAs) comprise deletions or amplifications of fragments of genomic material that are particularly common in cancer and play a major contribution in its development and progression. High resolution microarray-based genome-wide technologies have been widely used to detect CNAs, generating complex datasets that require further steps to allow for the determination of meaningful results. In this work, we propose a methodology to determine common regions of CNAs from these datasets, that in turn are used to infer the probability distribution of disease profiles in the population. This methodology was validated using simulated data and assessed using real data from Head and Neck Squamous Cell Carcinoma and Lung Adenocarcinoma, from the TCGA platform. Probability distribution profiles were produced allowing for the distinction between different phenotypic groups established within that cohort. This method may be used to distinguish between groups in the diseased population, within well-established degrees of confidence. The application of such methods may be of greater value in the clinical context both as a diagnostic or prognostic tool and, even as a useful way for helping to establish the most adequate treatment and care plans.
URI: https://hdl.handle.net/10316/106713
ISSN: 2045-2322
DOI: 10.1038/s41598-020-71859-1
Rights: openAccess
Appears in Collections:FMUC Medicina - Artigos em Revistas Internacionais
I&D ICBR - Artigos em Revistas Internacionais
I&D IBILI - Artigos em Revistas Internacionais

Show full item record

SCOPUSTM   
Citations

8
checked on Oct 14, 2024

WEB OF SCIENCETM
Citations

9
checked on Oct 2, 2024

Page view(s)

103
checked on Oct 29, 2024

Download(s)

44
checked on Oct 29, 2024

Google ScholarTM

Check

Altmetric

Altmetric


This item is licensed under a Creative Commons License Creative Commons