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Chapter 18: Problem 14

Explain differences between whole-genome sequencing (WGS) and whole-exome sequencing (WES), and describe advantages and disadvantages of each approach for identifying diseasecausing mutations in a genome. Which approach was used for the Human Genome Project?

Short Answer

Expert verified
Answer: Whole-genome sequencing (WGS) determines the complete DNA sequence of an organism's genome, while whole-exome sequencing (WES) focuses only on the protein-coding regions called exons. WGS provides a comprehensive view of the entire genome, capturing both protein-coding and non-coding regions, but is more expensive and time-consuming. WES is faster and more cost-effective, but only focuses on protein-coding regions, missing potentially important non-coding and regulatory regions. The Human Genome Project used a whole-genome sequencing approach.

Step by step solution

01

Whole-Genome Sequencing (WGS) vs Whole-Exome Sequencing (WES)

Whole-genome sequencing (WGS) is a technique that determines the complete DNA sequence of an organism's genome, while whole-exome sequencing (WES) focuses only on the protein-coding regions of the genome called exons. Since the majority of disease-causing mutations occur within the coding regions, WES can offer a faster and more cost-effective alternative to WGS.
02

Advantages of Whole-Genome Sequencing (WGS)

There are several advantages of using WGS for identifying disease-causing mutations: 1. WGS provides a comprehensive view of the entire genome, capturing both protein-coding and non-coding regions of DNA. This allows for the identification of mutations in regulatory elements and non-coding RNAs that may be associated with disease. 2. WGS can detect structural variations such as large insertions, deletions, and duplications, which are typically missed by WES. 3. WGS is more effective in detecting copy number variations, which can cause certain genetic disorders.
03

Disadvantages of Whole-Genome Sequencing (WGS)

Despite the aforementioned advantages, WGS has some drawbacks: 1. WGS is more expensive and time-consuming compared to WES due to the need to sequence the entire genome. 2. The large amount of data generated by WGS can be challenging to store, manage, and analyze.
04

Advantages of Whole-Exome Sequencing (WES)

Whole-exome sequencing (WES) offers some benefits over WGS for identifying disease-causing mutations: 1. WES is faster and more cost-effective since it only focuses on the protein-coding regions, which make up approximately 1-2% of the genome. 2. The reduced data volume from WES is easier to store, manage, and analyze compared to WGS.
05

Disadvantages of Whole-Exome Sequencing (WES)

WES also has certain limitations when compared to WGS: 1. WES misses potentially important non-coding and regulatory regions of the genome, which can harbor disease-causing mutations. 2. WES has limited capability to detect structural variations and copy number variations.
06

Approach used in the Human Genome Project

The Human Genome Project used a whole-genome sequencing approach to determine the complete nucleotide sequence of the human genome. This comprehensive analysis provided invaluable information about the structure, organization, and function of human genes, paving the way for future genomic research.

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Most popular questions from this chapter

It can be said that modern biology is experiencing an "omics" revolution. What does this mean? Explain your answer.

Annotation involves identifying genes and gene-regulatory sequences in a genome. List and describe characteristics of a genome that are hallmarks for identifying genes in an unknown sequence. What characteristics would you look for in a bacterial genome? A eukaryotic genome?

The Human Genome Project has demonstrated that in humans of all races and nationalities approximately 99.9 percent of the genome sequence is the same, yet different individuals can be identified by DNA fingerprinting techniques. What is one primary variation in the human genome that can be used to distinguish different individuals? Briefly explain your answer.

In Section 18.8 we briefly discussed The Human Proteome Map (HPM). An interactive Web site for the HPM is available at http:I/ www.humanproteomemap.org. Visit this site, and then answer the questions in parts (a) and (b) and complete part (c). (a) How many proteins were identified in this project? (b) How many fetal tissues were analyzed? (c) Use the "Query" tab and select the "Gene family" dropdown menu to do a search on the distribution of proteins encoded by a pathway of interest to you. Search in fetal tissues, adult tissues, or both.

BLAST searches and related applications are essential for analyzing gene and protein sequences. Define BLAST, describe basic features of this bioinformatics tool, and give an example of information provided by a BLAST search.
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