Essays on Exons

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 rediscovery of Mendel's works on heredity in 1900 became the foundation to investigate more on genetics. However, the acceleration of the study of genetics was slow, taking more than half a century later for Watson and Crick to crack the chemical basis of heredity. In fact, their proposal, the double helical structure of DNA, became the beginning of modern biology. Over the next 30 years, the advent of recombinant DNA technology allowed us to sequence specific DNA segments (Collins & McKusick, 2001). Note that mapping specific regions of a particular DNA offers explanations to many traits, including behaviors, disorders, ...

Procedure 1: Locating the position of a gene

In Ensembl: Search the internet link to the ensemble website: http://www.ensembl.org/index.html On the Genome Browser located on the web page, select the human genome – GRCh38.p5 – to obtain various sub-topics about the genome. Type the name of the gene in the search box of the human genome webpage. The MSRA homepage will contain a summarized description of the gene, including the including the location of the chromosome, its size, and the start and finish nucleotide.

In NCBI:

Search the link http://www.ncbi.nlm.nih.gov/ to obtain the NCBI homepage. Type the gene name MSRA on the gene search box. From the list of search results, ...