Tying Genomes with Disease

Document Type

Book Chapter

Publication Title

Indian Statistical Institute Series

Abstract

Genes, genome, etc. are common words that feature in any genetic analysis. It is now believed that disease, be it monogenic or complex, has been manifested due to the genetic architecture of the organism. Humans are no different. There are around 30000 genes in the human body. These genes are scattered over the human genome which consists of 22 homologous pairs of chromosomes (autosomes) and one pair of sex chromosomes. Quite naturally, we assume that one set of chromosomes that is transmitted from the father and the other set that is transmitted from the mother are completely independent. The holy grail of any genetic study is to first identify the gene(s) responsible to cause the disease or has some role in at least increasing the disease risk. It was with this question in mind, that the genetic association study was launched with the primary focus of identifying a gene or a set of genes that are associated with the disease or phenotype in general. Note that we have no idea where the disease gene is located on the human genome and this is what we try to find out. Eventually, this identification of genes that are responsible for the disease might lead to specific drugs targeting to cure the disease. In this quest, we need data. Our hope is that appropriate data can answer, or at least throw some light, in deciphering the genetic architecture. Data consist not only of genetic data, but also phenotype data along with information on covariates, environment, etc., that are deemed relevant to our study of interest.

First Page

129

Last Page

173

DOI

10.1007/978-981-99-3220-7_6

Publication Date

1-1-2023

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