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6 Things to Know about Genome Sequencing

by Alan Daniel

I read a little bit about Pacific Biosciences Of California, a genome sequencing company, the other day. It is a biotechnology company that came about in 2004 that creates systems for gene sequencing and real-time biological observation.

I know nothing about gene sequencing, so I wanted to dive into the sector by studying what this company does. But why would I want to learn more about gene sequencing? Well, it could make significant breakthroughs for humans and increase the overall quality of life. Some say gene sequencing, and the different applications that stem from this industry are the next frontier.

Let’s first take a look at the aspect of genomes before we look at genome Sequencing.

Genome

The National Institute of Health states that a “genome is an organism’s complete set of DNA, including all of its genes. Each genome contains all of the information needed to build and maintain that organism. In humans, a copy of the entire genome—more than 3 billion DNA base pairs—is contained in all cells that have a nucleus.”

DNA are chemicals that set of instructions that keep a specific component of the organism running. The DNA code consists of adenine, cytosine, guanine, and thymine.

 DNA form chromosomes and segments of these chromosomes are read together to produce genes.

Genes give organisms specific traits ranging from hair color to eye color.

These are the essentials of the building blocks of existence.

What is Genome Sequencing?

Genome sequencing is “figuring out the order of DNA nucleotides, or bases, in a genome—the order of As, Cs, Gs, and Ts that make up an organism’s DNA. According to Genome News Network, the human genome is made up of over 3 billion of these genetic letters.

As you can see, this is an arduous task to unravel the mysteries present in the human genome. At the present moment, significant DNA sequencing that occurs on a considerable scale takes place with the assistance of technology. 

Your brain processes information regularly and translates it and contextualizes it, and it learned to do that over time. In the same way, these technological devices view DNA bases and read them.

These machines process the information present within a DNA sequence and translate it from nature’s code to something we can understand. As you can see, that seems a bit like decoding enigmatic information.

Indeed, it still is, and the output of processing DNA information may look like this:

ACCAGTCCAGCTA

These strings of letters represent the start of the sequencing journey. At the current moment, without context, the string of letters might as well be

Arabic, Latin, or another language you can’t read.

We still need to understand these strings by themselves, how they interact with each other, and how they operate by themselves to bring about what we see as we interact with each other on a larger level.

But the problem here is that genome sequencing is not easy, and it can be hard to decode the data and obtain accurate and standard results. That is a major problem because we can only make substantial progress if we can process genes and related information accurately. As such, companies seek to present accurate genome sequencing and analysis and improve the annotation and interpretation process.

What Does the Process of Genomic Sequencing Look Like?

Genome sequencing works step by step, and we are still not yet at a level where we sequence entire genomes in one go due to lack of adequate methodology and technology. That is why genome sequencing is a herculean task. It requires great patience, proper inputs, and effective care throughout the process.

The entire process works like this:

  • Acquire DNA
  • Sample Prep
  • Sequencing
  • Informatics Pipeline
  • Content and Annotation
  • Interpretation

But why is genome sequencing essential?

What Is Genome Sequencing Used for?

Basically, genome sequencing is used to learn more about the human DNA structure. For instance, Stephen Burley, notes that if we were to “solve the structure of a sufficiently large sample of proteins that all other proteins can be modeled by homology to a solved structure.” That means we would have in-depth information on more than 20,000 structures.

Further, it is a valuable process that helps to identify and quantify individual proteins in complex mixtures, as Ruedi Aebersold found in his research.

Others, such as Thomas Gingeras, are using “microarray chips to measure exactly which nucleotides are transcribed into RNA”. 

The big idea here is that genome sequencing can help in solving complex human diseases. Specifically, it identifies the genes present within these diseases and delves into the components that make these genes.

In summary, sequencing the genome helps to comprehend it piece by piece. At first, scientists will use genome sequencing to see what it all means. Then they can start to translate it bit by bit before they realize how it works in its entirety. Once they can do that, they can then know how to adjust the genes, manipulate it, and define organisms.

Genome Sequencing Benefits

Here is the breakdown of a few of the benefits of genome sequencing:

  • Obtain information to make breakthroughs in medicine and overall quality of care. It can help in preventative medicine, identify variants, and increase targeted attention to the unique needs of the individual. It can be a substantial help in treatment plans ranging from medicine to others. As such, it can help a wide variety of people ranging from this with cancer to those who are suffering from unknown diseases. Note: DNA tests help to start the journey of inner genetic discovery.
  • Accuracy of DNA information is a critical component of this process. That means understanding how it is handled, then prepping, and sequencing. The more work that is done in the first part of the process, the more accurate the knowledge scientists can gain.
  • Valuable Information to current and future generations
  • Deeper understanding of your genes
  • Minimize uncertainty in several situations
  • Understand gene sequence interaction with pharmaceutical medications
  • Add to research and collective human knowledge

Current Constraints to the Consumer in Genome Sequencing

It is not cost-effective to conduct whole-genome sequencing for the consumer at the current moment. The process can cost around $10,000 to $20,000 or more. But the costs of this process are likely to decrease over the next few decades, creating a boom in personalized and customized data-driven care.

This serves as a strong foundation to learn more about genome companies and how they can play a role in advancing the industry. Stay tuned to learn more about the companies in the space themselves.

 

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