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An introduction to the predictors of pathogenic point mutations

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Single nucleotide variation is a change in a single nucleotide in a sequence irrespective of the frequency of the variation. Single nucleotide variants (SNVs) play a very important role in causing several diseases such as the tumor, cancer, etc. Many efforts have been made to identify the SNVs which were initially based on identifying non-synonymous mutations in coding regions of the genomes. Continue reading “An introduction to the predictors of pathogenic point mutations” »

SparkBLAST: Introduction

in Algorithms/Cloud Computing/Sequence Analysis by

The basic local alignment search tool (BLAST) [1,2] is known for its speed and results, which is also a primary step in sequence analysis. The ever increasing demand of processing huge amount of genomic data has led to the development of new scalable and highly efficient computational tools/algorithms. For example, MapReduce is the most widely accepted framework which supports design patterns representing general reusable solutions to some problems including biological assembly [3] and is highly efficient to handle large datasets running over hundreds to thousands of processing nodes [4]. But the implementation frameworks of MapReduce (such as Hadoop) limits its capability to process smaller data. Continue reading “SparkBLAST: Introduction” »

Role of Information Theory, Chaos Theory, and Linear Algebra and Statistics in the development of alignment-free sequence analysis

in Algorithms/Sequence Analysis/Softwares by

Sequence alignment is a customary to not only find similar regions among a pair of sequences but also to study the structural, functional and evolutionary relationship between organisms. Many tools have been discovered to achieve the goal of alignment of a pair of sequences, separately for nucleotide sequence and amino acid sequence, BLOSSUM & PAM [1] are a few to name. Continue reading “Role of Information Theory, Chaos Theory, and Linear Algebra and Statistics in the development of alignment-free sequence analysis” »

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