Genetic Data Analysis

Genetic Data Analysis

M. Shamila (Malla Reddy Engineering College, India) and Amit Kumar Tyagi (Vellore Institute of Technology, Chennai, India)
DOI: 10.4018/978-1-7998-2742-9.ch017
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Genome-wide association studies (GWAS) or genetic data analysis is used to discover common genetic factors which influence the health of human beings and become a part of a disease. The concept of using genomics has increased in recent years, especially in e-healthcare. Today there is huge improvement required in this field or genomics. Note that the terms genomics and genetics are not similar terms here. Basically, the human genome is made up of DNA, which consists of four different chemical building blocks (called bases and abbreviated A, T, C, and G). Based on this, we differentiate each and every human being living on earth. The term ‘genetics' originated from the Greek word ‘genetikos'. It means ‘origin'. In simple terms, genetics can be defined as a branch of biology, which deals with the study of the functionalities and composition of a single gene in an organism. There are mainly three branches of genetics, which include classical genetics, molecular genetics, and population genetics.
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Genetics (WHO, 2002) is the investigation of genes, genetic variety and heredity in living organism. Genetics is the basic of heredity. Heredity is the transmission of genetically based characteristics from ancestor to descendant. Any form of heritable feature is known as a character. Some examples for this type of characters are eye color, hair color, height etc. DNA (deoxyribo nucleic acid) is the main genetic substance of all living organism. DNA of Human being consists of 23 pairs of chromosomes. For example, chimpanzees consist of 24 pair of chromosomes. This means only 2% difference between human and chimpanzee in DNA structure. That is the main reason because humans are said to genetically evolved from ape like creature especially chimpanzee. Genetic studies were carried out since the classical era where the scientist like Aristotle and Hypocrites put forward some theories like how the parental characteristics are passed to the offspring. However, breakthrough was achieved in 19th century when Gregor Mendal experiments with pea plants and discovered the fundamental laws of inheritance.

In cells gene is part of DNA. Genes can be defined as instruction manual to create a living being. Every gene has two alternative forms. And this alternative form is known as alleles. The four nitrogen bases present in the DNA are adenine (A), thymine (T), guanine (G) and cytosine (C). A pair with T and C with G. Thus, in the double stranded form, each strand contains all the necessary information, redundant with its partner strand. Genes are arranged linearly along the DNA sequence. Human DNA consists of 3billion bases. According to the U.S. National Library of Medicine (NLM) more than 99 percent of these bases are identical in all people.

Genetic analysis is the general procedure of contemplating and looking into in fields of science that include hereditary qualities and molecular biology. There are various applications that are created from this exploration, and these are likewise viewed as parts of the procedure. Genetic analysis can be utilized for the most part to depict strategies both utilized in and coming about because of the sciences of hereditary qualities and molecular biology, or to applications coming about because of this research. The process of genetic analysis began in the primitive days itself. Early people found that they could use selective breeding to improve yields and creatures. They additionally distinguished acquired qualities in people that were dispensed with throughout the years. The numerous hereditary investigations step by step advanced after some time.

As we mentioned above genetics is the study of hereditary, which emphasis on the study of limited number of genes with specific function whereas genomics (WHO, 2002; WHA, 2004)is a new term which focus on study of whole organism gene set called as genome. Genomics become popular in the last couple of decades due to the advancement of technologies. But most of the time these two terms are often used interchangeably. We can consider genetics as a subset of genomics. The table 1 shown below give insight to distinction between these two terms.

Table 1.
Difference between Genetics and Genomics
It focuses on study of functionalities of a single geneIt includes study of whole gene and the inter relationships among them
Gene refers to particular DNA sequence of a single chromosomeGenome is complete hereditary information of an organism
Father of genetics is Gregor MendalIntroduced by Tom Roderick
Biochemistry and biology help to explore this fieldCan be explored with the help of bioinformatics and molecular biology
It emphasis on single gene behaviourIt emphasis entire genome of an organism

Key Terms in this Chapter

DNA: It stands for deoxyribonucleic acid. The carrier of heredity composed of nucleotides. It carries genetic information within a cell that is transmitted from generation to generation.

Gene: The basic unit of heredity. Typically, a gene is a segment of DNA that occupies a particular location on a chromosome, and encodes for a protein.

Genomics: It includes study of whole gene and the inter relationships among them.

Genetics: It focuses on study of functionalities of a single gene.

Chromosome: a strand of DNA tightly wrapped around proteins called histones. Chromosomes are the way DNA is organized in a cell.

Genome: The complete set of genes in an organism. The total genetic content in one set of chromosomes.

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