EBK CONCEPTS OF GENETICS
12th Edition
ISBN: 9780134818979
Author: Killian
Publisher: YUZU
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Chapter 21, Problem 25ESP
Whole-exome sequencing (WES) is helping physicians diagnose 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 WES for a patient, would you also include an analysis of the patient’s mitochondrial genome?
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Students have asked these similar questions
Transcriptome analysis involves two separate methodologies: gene expression and RNA seq analyses. The 10 items below are a scrambled listing of the steps used in the two procedures. Identify the steps involved in RNA seq from the list below. Use the numbers in the list to refer to each step. Once the steps for RNA seq have been identified, write the steps in the order in which they are performed during the experiment.
(1) DNA sequencing
(2) Allow for hybridization and wash excess cRNA.
(3) Mix labeled cRNA with array chip.
(4) PCR amplification
(5) Measure fluorescence intensity to determine abundance of transcripts.
(6) Add labeled cRNA at each microarray location.
(7) Map cDNA sequences to the genome of the organism to determine identity and abundance of transcripts.
(8) mRNA isolation from cells
(9) Prepare fluorescently labeled cRNA probes
(10) cDNA synthesis
Microarray hybridization is used mostly in transcript profiling or assaying DNA variation. Although the technology for establishing DNA microarrays was developed only recently, numerous applications have already been developed and their impact on future biomedical research and diagnostic approaches is expected to be profound. Give some examples of the practical use of this technique.
High-throughput DNA sequencing technology ...
1.) is far cheaper than Sanger sequencing on a per-basta basis.
2.)can generate millions or billions of base pairs of sequence data for each sample.
3.)often involves shotgun sequencing, in which random fragments of DNA from a sample (rather than a specific, targeted portion of the genome) are sequenced.
4.) All of the above
Chapter 21 Solutions
EBK CONCEPTS OF GENETICS
Ch. 21 - In a sequence encompassing 99.4 percent of the...Ch. 21 - Annotation of a proteome attempts to relate each...Ch. 21 - Because of its accessibility and biological...Ch. 21 - If you had Crohns disease or ulcerative colitis...Ch. 21 - Prob. 2CSCh. 21 - Prob. 3CSCh. 21 - HOW DO WE KNOW? In this chapter, we focused on the...Ch. 21 - CONCEPT QUESTION Review the Chapter Concepts list...Ch. 21 - What is functional genomics? How does it differ...Ch. 21 - Compare and contrast WGS to a map-based cloning...
Ch. 21 - What is bioinformatics, and why is this discipline...Ch. 21 - Annotation involves identifying genes and...Ch. 21 - Prob. 7PDQCh. 21 - BLAST searches and related applications are...Ch. 21 - What functional information about a genome can be...Ch. 21 - Describe three major goals of the Human Genome...Ch. 21 - Describe the human genome in terms of genome size,...Ch. 21 - The Human Genome Project has demonstrated that in...Ch. 21 - Through the Human Genome Project (HGP), a...Ch. 21 - Explain differences between whole-genome...Ch. 21 - Describe the significance of the Genome 10K...Ch. 21 - Prob. 16PDQCh. 21 - Prob. 17PDQCh. 21 - What are DNA microarrays? How are they used?Ch. 21 - Prob. 19PDQCh. 21 - Prob. 20PDQCh. 21 - Researchers have compared candidate loci in humans...Ch. 21 - Homology can be defined as the presence of common...Ch. 21 - Prob. 23ESPCh. 21 - Prob. 24ESPCh. 21 - Whole-exome sequencing (WES) is helping physicians...Ch. 21 - Recall that when the HGP was completed, more than...
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- Describe the main technique for amplifying a segment of DNA (like the one you suspect is involved in Lee’s cancer) from a complex mixture of genomic DNA. Remember that the entire human genome sequence is known. (Hint: This is a technique that is commonly used by laboratories that do genetic testing and various other applications of molecular biology.)arrow_forwardThe optimal design of primers is critical to the effective amplification of DNA sequences. i) Outline the criteria for optimal primer design. i) Illustrate forward and reverse primer sequences using an example of a hypothetical DNA fragment. Give a brief overview of an online primer design software program.arrow_forwardGENETICS if/when a "whole-genome shotgun" approach is used for DNA sequencing, which of the following is MOST likely to create problems during the assembly of a complete genomic sequence? a) long sequence reads b) a high degree of coverage/ redundancy in the sequence data c) the presence of repetitive DNA d) not enough contigs e) all of the abovearrow_forward
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- Hi, I would like to know which program is used for the graphical presentation of the results of a meta-analysis of genome-wide linkage scans?arrow_forwardIn a typical PCR reaction, describe what is happening in stages occurring at temperature ranges (a) 92–95°C, (b) 45–65°C, and (c) 65–75°C.arrow_forwardIhsan is a biologist working with the genetics of a psychrophilic bacterium. He cloned an antifreeze gene from the bacteria for further analysis. After cloning, he isolated the plasmid carrying his gene of interest for sequencing. Ihsan finally received the nucleotide sequence of his gene. Explain in detail how he could verify whether the nucleotide sequence matches his gene of interest using the bioinformatics databases available.arrow_forward
- a. What type of nucleic acid and from what species would the scientist use to begin construction of her genomic DNA library? b. From what tissue would she isolate this nucleic acid? c. What type of reagent would the scientist use to cut the genome into appropriately sized fragments? d. What size nucleic acid fragments would one aim to prepare for the library construction so as to to avoid having to screen an overwhelming number of clones? e. Into what vector would the scientist ligate her genomic DNA fragments? f. What organism would the scientist use to propagate the clones of her genomic DNA library? g. From the information given in the problem determine what probe could be used to screen the scientist's library to find her clone of interest ?arrow_forwardJackson Wang is a biologist working with the genetics of a thermophilic bacterium. He cloned a heat shock gene from the bacteria for further analysis. After cloning, he isolated the plasmid carrying his gene of interest for sequencing. Jackson finally received the nucleotide sequence of his gene. Explain in detail how he could verify whether the nucleotide sequence matches his gene of interest using the bioinformatics databases available.arrow_forwardDr. Serena Velazquez lands a coveted post-doc position at Johns Hopkins following completion of her MD/PhD in cancer therapeutics to treat late-stage pancreatic cancer using a mouse model. Her post-doc will be devoted to targeted mutagenesis of replicative enzymes to halt cell division in cancerous cells. She reviews mitosis and meiosis before reporting for her first day of work. 1) Dr. Velazquez considers targeted mutagenesis of DNA ligase. What would that do? a) Prevent dsDNA from binding to SSB. b) Prevent the leading strand from being able to unite together Okazaki fragments. c) Prevent the lagging strand from being able to unite together Okazaki fragments. d)Prevent replication of DNA.arrow_forward
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Genome Annotation, Sequence Conventions and Reading Frames; Author: Loren Launen;https://www.youtube.com/watch?v=MWvYgGyqVys;License: Standard Youtube License