Editorial
Advances in Computational Methods for Genetic Diseases
Francesco Camastra,
1
Roberto Amato,
2
Maria Donata Di Taranto,
3
and Antonino Staiano
1
1
Department of Science and Technology, University of Naples Parthenope, Centro Direzionale, Isola C4, 80143 Napoli, Italy
2
Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK
3
IRCCS SDN, Via E. Gianturco 113, 80143 Napoli, Italy
Correspondence should be addressed to Francesco Camastra; francesco.camastra@uniparthenope.it
Received 10 May 2015; Accepted 10 May 2015
Copyright © 2015 Francesco Camastra et al. is is an open access article distributed under the Creative Commons Attribution
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly
cited.
Genetic diseases are a wide group of diseases in which the
etiopathogenesis is caused by or related to genetic factors. e
role of genetics in the disease development can be more or
less relevant depending on the specific characteristics of the
disease, and a wide spectrum of complexity exists.
Monogenic diseases, for example, are directly caused by
defects in a specific gene whereas complex and polygenic dis-
eases are generally caused by the interactions between multi-
ple genes or between genetic and environmental factors. To
the last category belong many forms of cancer, an uncon-
trolled growth of cells with alterations of the genetic mate-
rials.
In the last decade, a large amount of experimental data has
become available, so the identification of strategies to process
and, most importantly, interpret them is crucial. e massive
volume of data, both in terms of quantity and of dimension-
ality, and their heterogeneity and low signal-to-noise ratio are
just some of the most obvious challenges that they present. To
give an example, single nucleotide DNA mutations are one of
the most common factors analysed in relation to the devel-
opment of a genetic disease. However, this sometimes trans-
lates into dealing with millions of variants measured across
thousands of individuals, where only a handful are infor-
mative. In fact, other more complex factors, such as gene
expression, could play a significant role.
e aim of this special issue is to review the recent
advances in computational methods concerned with genetic
diseases.
e issue received sixteen submissions; each one was
referred by at least two international reviewers that we
warmly thank for their time. Six papers have been accepted
for the publication.
“A New Approach for Mining Order-Preserving Subma-
trices Based on all Common Subsequences” by Y. Xue et al.
proposes, in the context of gene expression data, a pattern-
based subspace clustering or OPSM (order-preserving sub-
matrix model), based on frequent sequential pattern. e
approach has been experimentally proven to be able to
discover the biological significant OPSMs and deep OPSMs
exhaustively.
“Evolutionary Influenced Interaction Pattern as Indicator
for the Investigation of Natural Variants Causing Nephro-
genic Diabetes Insipidus” by S. Grunert and D. Labudde
is devoted to the application of a high-throughput analysis
method based on motif conservation among proteins of the
same protein family for analysis of interacting sequences.
is investigation can help to analyze the pathogenic impact
of mutations causing alterations in interacting regions of
a protein. is analysis has been applied on membrane
proteins, in particular to the aquaporin 2 whose mutants are
involved in nephrogenic diabetes insipidus.
“Unified Modeling of Familial Mediterranean Fever and
Cryopyrin Associated Periodic Syndromes” by Y. Bozkurt
et al. describes a unifying dynamical model for Familial
Mediterranean Fever (FMF) and Cryopyrin Associated Peri-
odic Syndromes (CAPS) in the form of coupled nonlinear
ordinary differential equations. e authors perform a com-
prehensive bifurcation analysis of the model and show that it
exhibits three modes, capturing the healthy, FMF, and CAPS
cases. ey present extensive simulation results for the model
that match clinical observations.
“Enhancing the Lasso Approach for Developing a Sur-
vival Prediction Model Based on Gene Expression Data” by
S. Kaneko et al. presents a novel improvement to the lasso
Hindawi Publishing Corporation
Computational and Mathematical Methods in Medicine
Article ID 645649