Chapter 18: Problem 6
List and describe three major goals of the Human Genome Project.
Chapter 18: Problem 6
List and describe three major goals of the Human Genome Project.
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Get started for freeExome sequencing is a procedure to help physicians identify the cause of a genetic condition that has defied diagnosis by traditional means. The implication here is that exons in the nuclear genome are sequenced in the hopes that, by comparison with the genomes of nonaffected individuals, a diagnosis might be revealed. (a) What are the strengths and weaknesses of this approach? (b) If you were ordering exome sequencing for a patient, would you also include an analysis of the patient's mitochondrial genome?
In this chapter, we focused on the analysis of genomes, transcriptomes, and proteomes and considered important applications and findings from these endeavors. At the same time, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions: (a) How do we know which contigs are part of the same chromosome? (b) How do we know if a genomic DNA sequence contains a protein-coding gene? (c) What evidence supports the concept that humans share substantial sequence similarities and gene functional similarities with model organisms? (d) How can proteomics identify differences between the number of protein- coding genes predicted for a genome and the number of proteins expressed by a genome? (e) How have microarrays demonstrated that, although all cells of an organism have the same genome, some genes are expressed in almost all cells, whereas other genes show celland tissue-specific expression?
What is bioinformatics, and why is this discipline essential for studying genomes? Provide two examples of bioinformatics applications.
The term paralog is often used in conjunction with discussions of hemoglobin genes. What does this term mean, and how does it apply to hemoglobin genes?
Through the Human Genome Project (HGP), a relatively accurate human genome sequence was published in 2003 from combined samples from different individuals. It serves as a reference for a haploid genome. Recently, genomes of a number of individuals have been sequenced under the auspices of the Personal Genome Project (PGP). How do results from the PGP differ from those of the HGP?
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