Before delving into the specifics of genomic sequence analysis, let us first try to understand the basic concept of the human genome. You must have heard of the human genome, the huge collection of genes inside each one of your cells. You probably also know that scientists have successfully sequenced the human genome. But what does that mean? How do you sequence someone’s genome? Let’s take a step back and try to understand What is a genome? A genome is the collection of all of an organism’s genes. Genes are made up of DNA, and DNA is made up of long, paired strands of A’s, C’s, T’s, and G’s:
- A denotes Adenine
- C denotes Cytosine
- T denotes Thymine
- G denotes Guanine
Interaction between codes in the genome
The genome has a code that tells your cells how to act. The interaction between the cells formulates the tissues. When the tissues collaborate, they develop organs in the human body. Genome is the fundamental constituent of the human body. It took twenty years to do genomic sequence analysis. It was due to the efforts of hundreds of scientists from several nations and was extremely expensive. However, in the not-too-distant future, knowing the sequence of letters that make up your own personal genome will be possible in a matter of minutes.
Genomic sequence analysis involves studying a sample of DNA extracted from your blood. Technicians in the lab isolate the DNA and prepare it for sequencing. Sequencing an organism’s entire genome is known as genome sequencing. Every normal cell contains a pair of 23 chromosomes. Chromosomes are the structures that house DNA wrapped into a double helix shape. The ladder-like form of the double helix can be unwound, and the ladder is made up of paired chemical letters called bases. Expert bio researchers of a PhD dissertation writing service have told that there are approximately six billion such linked chemical bases in our DNA.
How will you analyze genome sequences?
Genomic sequence analysis aims to determine the sequence of the billions of letters that make up your genome. A genome is both big and small. The individual letters of DNA, the A’s, T’s, G’s, and C’s are only eight or ten atoms wide. The individual letters are knitted together like a ball of yarn. So, to extract all of that data from that small region, scientists must first break the long strand of DNA into smaller bits. They then separate each of these pieces in space and sequence them individually. It is helpful to remember that DNA binds to other DNA if the sequences are the exact opposite of each other. The alphabetical letter such as A joins with T, T binds with A, G joins with the C, and C binds with the G. If the A-T-G-C sequence of two pieces of DNA are exact opposites, they stick together.
To read the base sequences in DNA, specialists place the samples in sequencing equipment. The sequencing equipment uses high-frequency sound waves to split the DNA into smaller pieces of around 600 bases. Technicians attach specific tags to the broken DNA’s ends. These labelled DNA strands can then be adhered to a glass slide. The sequencing equipment replicates each piece of DNA hundreds of thousands of times, resulting in clusters of identical DNA fragments.
Replication of Genome Pieces
In genomic sequence analysis researchers need the means to improve the signal they can detect from each of the individual letters because the genomic components are small. Scientists utilize enzymes to produce thousands of copies of each genome fragment in the most typical way. So, after that, they have thousands of replicas of each of the genome pieces, all with the same sequence of A-T-G-C.
The researchers must be able to read them somehow. They create a batch of customized letters to accomplish this, and each batch has its own color scheme. A mixture of these unique colored letters and enzymes is added to the genome they are trying to read. At each position on the genome, one of the unique letters links with its opposite letter, resulting in a double-stranded piece of DNA with a colourful spot at each letter. Researchers then take pictures of each snippet of the genome. Seeing the order of the colors allows them to read the sequence.
Use of Computer Programs to read the sequence
For genomic sequence analysis computer programs stitch together the sequences of each of these millions of bits of DNA to build a complete genome sequence. It isn’t the only method for deciphering the letter sequences of DNA fragments, but it’s one of the most frequent. Only reading the letters in the genome does not tell much to the researchers. It is like looking through a book written in a language you do not speak. Even if you identify all the letters, you will not understand what’s going on. So, the next step is to decipher what the sequence means and how one person’s genome differs from the other person. The genome component that researchers are currently working on is interpreting the genes. While not every difference is consequential, the sum of these differences is responsible for differences in our appearance, choices, actions, and health issues.
The sequencer reads DNA one base at a time using distinct colored tags for each DNA base. The machine’s special sensors detect the various colored tags. This color sequence shows the DNA sequence of each fragment. These individual DNA pieces are pieced together by powerful computers to reveal your DNA sequence. The DNA sequences are then analyzed and compared by a team of medical specialists using sophisticated algorithms to discover the multitude of variants that may be essential for your medical care.
Top genome sequencing companies
Following are the top genomic sequencing companies:
- Thermo Fisher Scientific
- BGI Genomics
- Agilent Technologies
- 10X Genomics
- Pacific Biosciences of California
- Oxford Nanopore Technologies
Genomic sequence analysis will give us a better knowledge of how differences in our genomes explain these distinctions. It will undoubtedly have an impact on the way we think. It can not only inform doctors how to treat their patients but can also affect how we treat each other as human beings.