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By the end of this section, you will be able to:
  • Describe three types of sequencing
  • Define whole-genome sequencing

Although there have been significant advances in the medical sciences in recent years, doctors are still confounded by some diseases, and they are using whole-genome sequencing to get to the bottom of the problem. Whole-genome sequencing is a process that determines the DNA sequence of an entire genome. Whole-genome sequencing is a brute-force approach to problem solving when there is a genetic basis at the core of a disease. Several laboratories now provide services to sequence, analyze, and interpret entire genomes.

For example, whole-exome sequencing is a lower-cost alternative to whole genome sequencing. In exome sequencing, only the coding, exon-producing regions of the DNA are sequenced. In 2010, whole-exome sequencing was used to save a young boy whose intestines had multiple mysterious abscesses. The child had several colon operations with no relief. Finally, whole-exome sequencing was performed, which revealed a defect in a pathway that controls apoptosis (programmed cell death). A bone-marrow transplant was used to overcome this genetic disorder, leading to a cure for the boy. He was the first person to be successfully treated based on a diagnosis made by whole-exome sequencing. Today, human genome sequencing is more readily available and can be completed in a day or two for about $1000.

Strategies used in sequencing projects

The basic sequencing technique used in all modern day sequencing projects is the chain termination method (also known as the dideoxy method), which was developed by Fred Sanger in the 1970s. The chain termination method involves DNA replication of a single-stranded template with the use of a primer and a regular deoxynucleotide    (dNTP), which is a monomer, or a single unit, of DNA. The primer and dNTP are mixed with a small proportion of fluorescently labeled dideoxynucleotides (ddNTPs). The ddNTPs are monomers that are missing a hydroxyl group (–OH) at the site at which another nucleotide usually attaches to form a chain ( [link] ). Each ddNTP is labeled with a different color of fluorophore. Every time a ddNTP is incorporated in the growing complementary strand, it terminates the process of DNA replication, which results in multiple short strands of replicated DNA that are each terminated at a different point during replication. When the reaction mixture is processed by gel electrophoresis after being separated into single strands, the multiple newly replicated DNA strands form a ladder because of the differing sizes. Because the ddNTPs are fluorescently labeled, each band on the gel reflects the size of the DNA strand and the ddNTP that terminated the reaction. The different colors of the fluorophore-labeled ddNTPs help identify the ddNTP incorporated at that position. Reading the gel on the basis of the color of each band on the ladder produces the sequence of the template strand ( [link] ).

A deoxynucleotide consists of a deoxyribose sugar, a base, and three phosphate groups. Dideoxyribose is identical to deoxyribose except that the hydroxyl (–OH) group at the 3' position is replaced by H. A 3' hydroxyl is necessary for elongation of the DNA chain, and the chain therefore stops growing if a dideoxyribose instead of deoxyribose is incorporated into the growing chain.
A dideoxynucleotide is similar in structure to a deoxynucleotide, but is missing the 3' hydroxyl group (indicated by the box). When a dideoxynucleotide is incorporated into a DNA strand, DNA synthesis stops.

Questions & Answers

I'm interested in biological psychology and cognitive psychology
Tanya Reply
what does preconceived mean
sammie Reply
physiological Psychology
Nwosu Reply
How can I develope my cognitive domain
Amanyire Reply
why is communication effective
Dakolo Reply
Communication is effective because it allows individuals to share ideas, thoughts, and information with others.
effective communication can lead to improved outcomes in various settings, including personal relationships, business environments, and educational settings. By communicating effectively, individuals can negotiate effectively, solve problems collaboratively, and work towards common goals.
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miss
Every time someone flushes a toilet in the apartment building, the person begins to jumb back automatically after hearing the flush, before the water temperature changes. Identify the types of learning, if it is classical conditioning identify the NS, UCS, CS and CR. If it is operant conditioning, identify the type of consequence positive reinforcement, negative reinforcement or punishment
Wekolamo Reply
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Wekolamo
because it helps many people around the world to understand how to interact with other people and understand them well, for example at work (job).
Manix Reply
Agreed 👍 There are many parts of our brains and behaviors, we really need to get to know. Blessings for everyone and happy Sunday!
ARC
A child is a member of community not society elucidate ?
JESSY Reply
Isn't practices worldwide, be it psychology, be it science. isn't much just a false belief of control over something the mind cannot truly comprehend?
Simon Reply
compare and contrast skinner's perspective on personality development on freud
namakula Reply
Skinner skipped the whole unconscious phenomenon and rather emphasized on classical conditioning
war
explain how nature and nurture affect the development and later the productivity of an individual.
Amesalu Reply
nature is an hereditary factor while nurture is an environmental factor which constitute an individual personality. so if an individual's parent has a deviant behavior and was also brought up in an deviant environment, observation of the behavior and the inborn trait we make the individual deviant.
Samuel
I am taking this course because I am hoping that I could somehow learn more about my chosen field of interest and due to the fact that being a PsyD really ignites my passion as an individual the more I hope to learn about developing and literally explore the complexity of my critical thinking skills
Zyryn Reply
good👍
Jonathan
and having a good philosophy of the world is like a sandwich and a peanut butter 👍
Jonathan
generally amnesi how long yrs memory loss
Kelu Reply
interpersonal relationships
Abdulfatai Reply
What would be the best educational aid(s) for gifted kids/savants?
Heidi Reply
treat them normal, if they want help then give them. that will make everyone happy
Saurabh
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Source:  OpenStax, Open genetics. OpenStax CNX. Jan 08, 2015 Download for free at https://legacy.cnx.org/content/col11744/1.3
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