The following regarding the exome sequencing procedure used in diagnosing genetic conditions: (a) The strengths and weaknesses of exome sequencing. (b) Whether an analysis of the patient’s mitochondrial genome would be included while ordering exome sequencing of a patient or not. Introduction: Exome sequencing is a technique used to sequence exons present in the genome of an individual. Exon sequencing helps in revealing mutations that cause diseases by considering only exons as exons are the protein-coding segments in the genome.

Question

Want to see the full answer?

Answer 1

Question

Chapter 18, Problem 20PDQ

Summary Introduction

To review:

The following regarding the exome sequencing procedure used in diagnosing genetic conditions:

(a) The strengths and weaknesses of exome sequencing.

(b) Whether an analysis of the patient’s mitochondrial genome would be included while ordering exome sequencing of a patient or not.

Introduction:

Exome sequencing is a technique used to sequence exons present in the genome of an individual. Exon sequencing helps in revealing mutations that cause diseases by considering only exons as exons are the protein-coding segments in the genome.

Expert Solution & Answer

Want to see the full answer?

Check out a sample textbook solution

See solution

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

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 ?

In order to target a specific region of genomic DNA with CRISPR, researchers must include a guide RNA containing a 20-basepair long spacer sequence that matches the DNA sequence at the target site. (i) How many possible guide RNA spacer sequences are there? (ii) One of the possible risks of genetic engineering methods is “off-target” editing, where a modification of the genome occurs in a part of the genome other than the target site. Imagine you design a 20-basepair guide RNA spacer sequence to target a specific portion of the Zebrafish genome, which is 1.7 billion nucleotides long. Assuming all nucleotides are equally common, estimate the probability that your spacer sequence occurs in at least one other position in the Zebrafish genome.