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Data Mining_ Concepts and Techniques - Jiawei Han [354]

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is difficult to capture. This makes sequence classification a challenging task.

Sequence classification methods can be organized into three categories: (1) feature-based classification, which transforms a sequence into a feature vector and then applies conventional classification methods; (2) sequence distance–based classification, where the distance function that measures the similarity between sequences determines the quality of the classification significantly; and (3) model-based classification such as using hidden Markov model (HMM) or other statistical models to classify sequences.

For time-series or other numeric-valued data, the feature selection techniques for symbolic sequences cannot be easily applied to time-series data without discretization. However, discretization can cause information loss. A recently proposed time-series shapelets method uses the time-series subsequences that can maximally represent a class as the features. It achieves quality classification results.

Alignment of Biological Sequences

Biological sequences generally refer to sequences of nucleotides or amino acids. Biological sequence analysis compares, aligns, indexes, and analyzes biological sequences and thus plays a crucial role in bioinformatics and modern biology.

Sequence alignment is based on the fact that all living organisms are related by evolution. This implies that the nucleotide (DNA, RNA) and protein sequences of species that are closer to each other in evolution should exhibit more similarities. An alignment is the process of lining up sequences to achieve a maximal identity level, which also expresses the degree of similarity between sequences. Two sequences are homologous if they share a common ancestor. The degree of similarity obtained by sequence alignment can be useful in determining the possibility of homology between two sequences. Such an alignment also helps determine the relative positions of multiple species in an evolution tree, which is called a phylogenetic tree.

The problem of alignment of biological sequences can be described as follows: Given two or more input biological sequences, identify similar sequences with long conserved subsequences. If the number of sequences to be aligned is exactly two, the problem is known as pairwise sequence alignment; otherwise, it is multiple sequence alignment. The sequences to be compared and aligned can be either nucleotides (DNA/RNA) or amino acids (proteins). For nucleotides, two symbols align if they are identical. However, for amino acids, two symbols align if they are identical, or if one can be derived from the other by substitutions that are likely to occur in nature. There are two kinds of alignments: local alignments and global alignments. The former means that only portions of the sequences are aligned, whereas the latter requires alignment over the entire length of the sequences.

For either nucleotides or amino acids, insertions, deletions, and substitutions occur in nature with different probabilities. Substitution matrices are used to represent the probabilities of substitutions of nucleotides or amino acids and probabilities of insertions and deletions. Usually, we use the gap character, −, to indicate positions where it is preferable not to align two symbols. To evaluate the quality of alignments, a scoring mechanism is typically defined, which usually counts identical or similar symbols as positive scores and gaps as negative ones. The algebraic sum of the scores is taken as the alignment measure. The goal of alignment is to achieve the maximal score among all the possible alignments. However, it is very expensive (more exactly, an NP-hard problem) to find optimal alignment. Therefore, various heuristic methods have been developed to find suboptimal alignments.

The dynamic programming approach is commonly used for sequence alignments. Among many available analysis packages, BLAST (Basic Local Alignment Search Tool) is one of the most popular tools in biosequence analysis.

Hidden Markov Model for Biological Sequence Analysis

Given a biological sequence,

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