How to Choose a Superior Quality, Cost Effective Bioinformatic Analysis Service Provider?

While the costs towards most data analysis and genome sequencing have crashed considerably, there is a need to ensure that cost reduction is never achieved at the cost of compromised quality. This is of paramount importance. The process of whole exome sequencing wherein all protein making genes are sequenced in the human genome is now available at affordable costs across nations. However, some companies continue to be the most sought after for the expertise and report generation process that works in a closely collaborative model, offering superior and optimized results.

Around one and a half decade ago, when the US government embarked on an ambitious plan to map the human genome, a scientist managed to pip the government to the mapping by achieving the breakthrough. The costs that were prevailing during the time of the invention were in the range of a few billions of dollars. They have now crashed to less than a thousand dollars.  This makes it possible for many research programs and clinical studies to proceed with lower exposure to costs.

The more number of applications and entities that use bioinformatic analysis, the better will be the progress in the unraveling of gene variations and disease intervention. At the heart of the breakthrough is the effort to make sequencing available to more users and use cases. End users will consequently get access to low cost whole exome sequencing tests. The tests typically look at the protein-making segments of DNA which accounts for most of the mutations that result in disease, despite the fact that they constitute only 2% of the genome. When it first burst upon the scene genome sequencing was expensive and out of reach. However the costs have fallen sharply and presently range anywhere between $500 to $1500, for mapping all the 20,500 genes in a human. There are additional costs involved, such as the costs towards analysis. However, it is still a very cost effective and relatively cheaper method, considering that fact that it was more than 20 times the average cost of the tests conducted now.

Whole exome sequencing has become a credible and cost effective alternative to whole genome sequencing because of the ability to target just the protein coding areas. As this covers almost 85% of the mutations that result in disease this helps in making significant progress in a very short time and at lesser costs. While whole genome sequencing has actually come down in terms of costs, it is still a bit hard on the purse and this is the reason why whole exome sequencing is turning out to be an easy choice, and a cheaper alternative. While exome sequencing cost is significantly lesser, another advantage is possibly the lesser amount of time that is required to carry out the tests. Another advantage is the ability to be able to ferret out information from lesser exome seq or rna seq data capture. Since it constitutes a very less percentage, researchers need not deal with large volumes of data, and can actually complete the tests with the limited data that is necessary.

Individuals who need to choose the best analysis, need to look at companies that possess expertise in handling multiple exome capture products. There are different capture methods and an expert company is one that has the ability to be able to work with all data capture methods. The expertise to create the library and carry out the analysis will then determine the success of the outcome. Here are a few filters that can be used to identify a lab that can offer the best results.

  • Single source for the requirement – The lab that you choose needs to be a single source for all requirements. Rather than use the services of multiple entities, it is always prudent to opt for one single entity. In other words the agency that you choose should be in a position to handle all the sequencing technologies, for instance – Illumina, Pacbio, Ion Torrent, Oxford Nanopore, Sanger and 10xGenomics.
  • Single expert point of contact – Your project will have to move through various stages in the process. However, dealing with different entities within the company can sometimes take a lot of time and will create confusion about the actual progress, and the ownership. The company that you choose to outsource your project needs to assign a single expert point of contact who will regularly update and ensure that your queries are clarified.
  • Streamlined and structured process flow – Sequencing and bioinformatics analysis workflow needs to be properly streamlined and structured in a manner so as to offer a clear and transparent picture of workflow status.
  • The right infrastructure for carrying out analysis and computation – A company needs to have right kind of infrastructure, technology and expertise to handle the analysis and computation. This will be the only guarantee for completion of analysis and project.
  • Adequate security measures to safeguard data – The company needs to have in place the right kind of procedures and systems to safeguard the data, including high levels of encryption and validation.

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