Discovering subgroups of patients from DNA copy number data using NMF on compacted matrices

PLoS One. 2013 Nov 20;8(11):e79720. doi: 10.1371/journal.pone.0079720. eCollection 2013.

Abstract

In the study of complex genetic diseases, the identification of subgroups of patients sharing similar genetic characteristics represents a challenging task, for example, to improve treatment decision. One type of genetic lesion, frequently investigated in such disorders, is the change of the DNA copy number (CN) at specific genomic traits. Non-negative Matrix Factorization (NMF) is a standard technique to reduce the dimensionality of a data set and to cluster data samples, while keeping its most relevant information in meaningful components. Thus, it can be used to discover subgroups of patients from CN profiles. It is however computationally impractical for very high dimensional data, such as CN microarray data. Deciding the most suitable number of subgroups is also a challenging problem. The aim of this work is to derive a procedure to compact high dimensional data, in order to improve NMF applicability without compromising the quality of the clustering. This is particularly important for analyzing high-resolution microarray data. Many commonly used quality measures, as well as our own measures, are employed to decide the number of subgroups and to assess the quality of the results. Our measures are based on the idea of identifying robust subgroups, inspired by biologically/clinically relevance instead of simply aiming at well-separated clusters. We evaluate our procedure using four real independent data sets. In these data sets, our method was able to find accurate subgroups with individual molecular and clinical features and outperformed the standard NMF in terms of accuracy in the factorization fitness function. Hence, it can be useful for the discovery of subgroups of patients with similar CN profiles in the study of heterogeneous diseases.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Cluster Analysis
  • DNA Copy Number Variations / genetics*
  • Gene Expression Profiling
  • Humans
  • Models, Theoretical*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide

Grants and funding

This work was partially supported by: Oncosuisse (grant OCS-1939-8-2006); Swiss National Science Foundation (grants 205321-112430, 205320-121886/1); Canton Ticino (Computational life science-Ticino in rete program); Swiss National Supercomputing Centre; Nelia et Amadeo Barletta Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.