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Applications_&_Challenges_of_Deep_Learning_in_the_field_of_bioinformatics Pandya Mrudang Daxeshkumar, Dr. Jardosh Sunil
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Applications & Challenges of Deep Learning in the field of
bioinformatics
Pandya Mrudang Daxeshkumar
Assistant professor, Information Technology dept.
CHARUSAT
Anand,India
E-mail- mrudangpandya.it@charusat.ac.in
Dr. Jardosh Sunil
Principal Software Engineer
Progress Software,
Hyderabad, India
E-mail: sunil.jardosh@gmail.com
Abstract: Analyzing large (big) data is becomes one of
the most emerging research areas for decision making.
Deep Learning (DL), a recent development in machine
learning techniques has demonstrates promising results
in many fields like computer vision, speech recognition
and bioinformatics. In the field of bioinformatics, the
transformation of medical domain big data into
measurable knowledge becomes one of the most
challenging tasks. In our work we have analyzed
applicability of DL to the bioinformatics domain,
current state-of-art and challenges. We believe our
comprehensive analysis provides profound insights on
DL architectures and methods used in bioinformatics.
Keywords: Machine Learning, Deep Learning,
Bioinformatics, Deep Neural Network (DNN),
Multilayer Perceptron (MLP), Deep Belief Network
(DBN), Stacked Auto-Encoder (SAE), Convolution
neural network (CNN), Convolutional Autoencoder
(CAE), Deep Spatiotemporal Neural Networks (DST-
NN).
1. Introduction
Machine-Learning becomes vitally important for
decision making systems, recommendation systems,
image analysis and web searching. There are several of
Machine Learning Algorithms(i.e., Artificial neural
network, support vector machines, random forests, hidden
Markov models, Bayesian networks, Gaussian networks)
have been applied to various bioinformatics fields like
genomics, proteomics and systems biology [13].
Usefulness of various ML techniques in various
bioinformatics fields are observable by resent publication
trend shown in figure1. It shows that in last few years
use of deep learning techniques in bioinformatics domain
growing very fast and it is quite evident in some of the
recent systems IBM’s watson[3] and Google’s
Deepmind[3]. IBM’s watson, which is used for oncology,
here main task of watson is to suggest patients' medical
health specification and also suggest doctors with
solution option. Apart from these, google'sDeepmind
have achieved positive approach with Alpha Go game
and in near past Deepmind has created Deepmind health
specially for health related terminology.
Generally, bioinformatics domain raw data cannot be
applied to traditional machine-learning techniques [1].
Because traditional techniques requires feature vectors as
a input and particularly for medical imaging analysis have
some issues of coping with variation in imaging
protocols, learning from weak labels, interpretation
and evaluation of results.
Fig. 1: Motivation for deep learning in bioinformatics
For an example to Neural Network (NN) needs a feature
vector as an input. Raw data cannot be used as feature
vector. A domain expert and careful engineering is
needed to process a raw data into a feature vector needed
as input to NN. This preprocessing is expensive and
time consuming task. Deep Neural Network (DNN)
which is one of the DL techniques helps here. DNN
extract features by themselves with multiple hidden
layers. This also called representation learning [2], i.e.,
learning representations of the data that make it easier to
extract useful information when building classifiers or
other predictors. There are mainly three categories of DL
architectures namely Deep Neural Network, Convolution
Neural Network and Recurrent Neural Network. In our
work we have analyzed these DL architectures, problems
needed to be addressed while applying these DL
architectures to bioinformatics problems. Rest of paper is
organized as follows. Deep Neural Network (DNN) has
different architectures depend on which learning
algorithm is used supervised or unsupervised. Based on
this there are mainly three DNN architectures Multilayer
Perceptron (MLP), Deep Belief Network (DBN), Stacked
Auto-Encoder (SAE). As we have discussed earlier
bioinformatics is good domain to explore DL phenomena.
Merriam-Webster has defined Bioinformatics as the
International Journal of Computer Science and Information Security (IJCSIS),
Vol. 15, No. 7, July 2017
76
https://sites.google.com/site/ijcsis/
ISSN 1947-5500
collection, classification, storage, and analysis of
biochemical and biological information using computers.
Some Research domains of bioinformatics are Protein
structure prediction, Gene expression regulation, Protein
classification, Anomaly classification etc. [18, 24, 48,
54]. In terms of data availability in the field of
bioinformatics there are basically three categories :
Omics (DNA, RNA, Protein sequences etc..) ,Biomedical
images (CT,MRI,PET etc..) , Biomedical signal
processing(ECG,EEG,EMG etc..). As describe in figure
2 with available data modalities we can able to solve
bioinformatics research problems with the use of DL.
Fig. 2: Bioinformatics data modalities-DL-Research
areas [3]
2. Related Work
Here we have presented deep learning architectures with
introduction and some of the bioinformatics domain
research problems in which DL techniques played crucial
part. Also for CNN we have basic practical example.
Before going in to the bioinformatics area in figure 3 we
have represented evolution steps or overview of deep
learning.
Fig. 3: Deep learning overview [3]
2.1 Bioinformatics:
Bioinformatics is defining as the science of collecting and
analyzing complex biological data such as genetic codes.
In below figure we classified different research areas with
bioinformatics data modalities.
Fig. 4: Bioinformatics data modalities and related
research areas [3]
2.2. Survey on Deep Architectures
The fundamental construction of DNN consists of an i/p
layer, many hidden layers, and an o/p layer. As one of the
representation learning methods, DL can learn and
discover hierarchical representations of data with
increasing level of abstraction layer [3]. Why Deep
Neural Network? One of the apparent reasons is that the
feature layer of Perceptron (one input and one output
layer) is fixed and crafted by human beings, which is
absolutely against the definition of a real “intelligent”
machine. Another reason is its single-layer structure
limits the functions it can learn, e.g, an exclusive-or
function is out of its learning ability. DNN layers
sequentially compute o/p when i/p is given. Primary, at
every layer, i/p vector, which consists of output values of
each unit in the layer below, is multiplied by the weight
vector for each unit in the present layer producing the
weighted sum. Then a nonlinear function such as
sigmoid, hyperbolic tangent or rectified linear unit (relu)
is applied to the weighted sum to compute the output
values of the layer. Through the computation in each
layer, the representations in the layer below are
transformed into slightly more abstract representations.
As a result, training of DNN aims to optimize the weight
vectors so that the most appropriate representation could
be learned. Based on the types of layer used in DNN and
the corresponding learning method, DNN can be
classified as MLP, SAE, and DBN.
2.2.1 Multilayer Perceptron (MLP):
MLP has a similar structure as the usual artificial neural
network, except that more non-linear layers are stacked. It
is trained in a purely supervised manner that uses only
data with labels by initializing the parameters randomly
and then training with backpropagation algorithm and
gradient descent (GD- to minimize the cost function with
finding values of parameters). In view of the fact the
training technique is a procedure of optimization in high
dimensional parameter space. When large numbers of
labeled data are available then we can use MLP.
International Journal of Computer Science and Information Security (IJCSIS),
Vol. 15, No. 7, July 2017
77
https://sites.google.com/site/ijcsis/
ISSN 1947-5500
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