Essays on Mendelian

Introduction

Exom sequencing is also known as whole exom sequencing (WES). This sequencing technique is used to sequence all the expressed genes in a genome also called as exom. It is one of the most widely used targeted sequencing methods. The exom which is the protein coding region of the human genome consists of less than 2% of the genetic code. This region is responsible for containing more than 85% of known disease-related variants. Thus, whole exom sequencing is a cost-effective alternative to whole genome sequencing (WGS). This technique is efficient in identifying coding variants across a wide range of ...

The chromosomal theory of inheritance is a theory that defines the role of the chromosomes in the execution of the process of Mendelian inheritance (Waddington, 2016). The theory makes a maximum application of the Mendelian laws of inheritance based on various observations. Some of the observations affiliate to the laws includes; the migration of the homologous pairs of chromosomes as discrete structures independent of the other pairs that exist in the same strand. In addition, the theory explains the random process of the pre-gamete occupation of each homologous pair of chromosomes (Waddington, 2016). The parent contributes half of the ...

Abstract

In the last century, the knowledge of molecular biology has increased, opening new opportunities for addressing different diseases that have been affecting all populations. Before, genome and proteomic studies were seen as complicated field due to inability to get significance understanding of disease components at the molecular level. However, with the expansion of molecular biology, different techniques and tools have been developed to aid diagnosis and treatment of diseases. In this study, these tools have been investigated to understand how the knowledge on molecular diagnosis helps in detection and treatment of diseases. This study focused on the application of ...