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Gene sequence data analysis – Overview

Medical Diagnosis Process for Sequencing

The ancient history of medical diagnosis process starts with the Egyptian[2] and Greece[3] civilizations. They are a perfect information resource despite the numerous information that is made available by medical researchers. This also includes DNA sequencing of the human genetic element.

A modern medical diagnosis process has been executed to find, analyze and control human health disorders. This is also entrusted to discover the treatment process, clinical improvements and diagnosis etc. The medical diagnosis process can be classified according to its own purposes and methods. The most important of these methods includes the diagnosis and screening process of health disorders. Each medical diagnosis process has its own indications and contraindications for the tests. These provide the indications to accept and reject the test diagnosis.

Challenges in Medical Diagnosis Process

There are several techniques and methodologies that are applied in different types of medical diagnosis. This diagnosis procedure is done by achieving a differential diagnosis or medical algorithms.

Medical diagnosis process is a complicated practice. This needs an appropriate clinical skill with proper expertise knowledge. These experts should be capable of analyzing and evaluating the critical clinical situations. The complex presentation in medical diagnosis process needs the interference in a probabilistic way.

In medical diagnosis a differential diagnosis may be defined as a process to distinguish the various disorders and its symptom conditions. This differential diagnosis process is used by medical experts to identify specific disease in a patient. In other ways they need to identify and eliminate all imminently life threatening conditions. Differential diagnosis has its own abbreviations.

Early DNA Sequencing Methods

The first DNA sequence was discovered in early years of 1970. This was done by various researchers through their critical research contributions which includes two dimensional chromatography[4], florescence based sequencing with DNA gene sequencer etc.

In 1970, the early identification and determination of DNA gene sequencing method based on location specific and primer extension procedure was discovered by Ray Wu at Cornell University. The present sequencing structures were classified using the classic DNA polymerase catalysis and labeling process of nucleotide. These processes were applied to categorize the lamb phage of DNA between the years 1970 to 1973.

Frederick Sanger is popular scientists who have been honored with noble prize twice to honor his findings on protein sequencing as well as sequencing of DNA. He has published and discovered a technique for sequencing DNA gene sequences through ‘chain terminating inhibitors’ by the year 1977. The various innovations in sequencing DNA genetic elements were succeeded by simultaneous advancements in recombinant technology in DNA[5]. The above advancement improves and applies in the samples of human genomes that can be easily differentiated or separated from DNA human genetic source elements than the virus elements.

Full Genomic Sequencing

The first and foremost sequencing of full DNA genome was done Bacteriophage φX17. This sequencing process was initiated in the year 1977. In 1984, the scientists of medicinal research board council(UK) have interpreted the full genomic sequencing of the virus ‘Epstein-Barr’. This virus surrounds 1,72,282 nucleotides in its gene sequence. This is considered as a great jump and a milestone in DNA sequencing.
In 1980’s, a nonradioactive technique for relocating the genetic elements of the DNA gene sequence coding was initiated. In the year 1976, the first semi-automated machine for gene sequencing was invented. In 1987 and by early 2000, DuPont’s Genesis full automated machine was invented.

HTS – High-Throughput Sequencing Methods

In current scenario, different advanced techniques in genomic research and techniques related to gene sequencing which were invented in the mid of 1990’s. There were some semi-automated and fully automated profit-making DNA sequencers by early 2000. These methods are also called as NGS. Some of the NGS methods compared are ‘Single molecule sequencing’, Pyro gene sequencing, Gene sequencing by synthesis , Ion semiconductor, combinatorial probe anchor synthesis, Nano pore Sequencing, Gene sequencing by ligation, and Chain termination.

The High-throughput Method or NGS methods are the sequencing methods which are used in genome sequencing process, RNA sequence profiling, chip- sequencing and characterization of Epi-genome. The re-sequencing is an important process because the genetic material of a particular personality type may not show every genomic discrepancy with new persons.

1. Ken Nguyen, Xuan Guo, Yi Pan (July 2016). Multiple Biological Sequence Alignment: Scoring Functions, Algorithms and Evaluation, ISBN: 978-1-118-22904-0
2. Ancient Egyptian medicine-
3. Ancient Greek medicine
4.Levitt M (May 2001). “The Birth of Computational Structural Biology”. Nature Structural & Molecular Biology. 8 (5): 392–3. Doi:10.1038/87545. PMID 11323711.
5.Alipanahi, B; Delong, A; Weirauch, Mt; Frey, Bj (Aug 2015). “Predicting The Sequence Specificities of DNA- and RNA-Binding Proteins By Deep Learning”. Nat Biotechnology. 33 (8): 831–8. Doi:10.1038/Nbt.3300. PMID 26213851.

Dr. Vijay Arputharaj is a Lecturer I of Computer and Information Science in Skyline University Nigeria. He has a PhD. in Computer Science, from Bharathiar University, Coimbatore, India.

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