The global NGS informatics and clinical genomics market is composed of tools, software solutions and services catering for the data analysis needs of the NGS market. Despite the technological advancement in the field of next generation sequencing, analysing huge datasets coming out of sequencers remains a major challenge in the industry that prevents the NGS technology to be used as a routine technique.
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There are three significant forms of NGS data analysis: primary, secondary, and tertiary analysis. The software platforms or tools catering for NGS data analysis either perform primary, secondary, and tertiary data analysis. However, there are software packages available which provide end to end (primary to tertiary) data analysis solutions. Some of the major analysis performed by NGS software tools include image acquisition, quality control, base calling, alignment to a reference genome, variant calling, and biological interpretation.
In the primary analysis stage, the raw data is converted to sequence data wherein the base pairs in a genome are typically identified by laser excitation or fluorescence detection. A primary data analysis tool is a part of sequencing instruments and is typically installed on the local hardware systems supporting sequencing instruments. The resultant of this data analysis stage is usually a FASTQ file (string of characters: A, C, T, G, and N). In the secondary data analysis stage, reads generated (short genomic sequences) are aligned against a reference genome. Once the file is aligned, a BAM file is generated which is subject to further refinement steps such as flagging or filtering of duplicate reads, recalibration of quality scores (in the first stage), and variant calling with the help of various statistical modelling techniques. The variant calling step determines the point of difference between the sample and the reference genome. The last and the most complex and time-consuming phase of NGS data analysis is tertiary analysis. This stage aims at identifying which variants in a sample are benign, pathogenic, or VUS (variant of unknown clinical significance). The complexity of the stage can be understood from the fact that one human exome may have approximately 3.2 million variants and interpretation of each of the variants become a daunting task for the industry.
The market report is well-designed to provide an all-inclusive field of vision about the global NGS informatics and clinical genomics market in terms of various factors, such as recent trends, technological advancements, competitive landscape, and regulatory environment of the market. The scope of this report is centred upon conducting a detailed study of the solutions allied with the global NGS informatics and clinical genomics market. The market has been segmented into “Technology” ’Products’, ’End Users’, and ’Region’. The report presents the reader with an opportunity to unlock comprehensive insights with respect to the market and helps in forming well-informed strategic decisions. The research uncovers some of the substantial parameters that must be taken into consideration before entering the market.
This research report aims at answering various aspects of the global NGS informatics and clinical genomics market with the help of the key factors driving the market, challenges, and threats that can possibly inhibit the overall growth of the market and the current investment opportunities that are going to shape the future trajectory of the market expansion. The study considers the growth-share matrix model for a comprehensive study of the global NGS informatics and clinical genomics market and assesses the factors governing the same.
The answers to the following key questions can be derived from this report:
- What are the major market drivers, challenges, and opportunities in the global NGS informatics and clinical genomics market?
- What was the market value of the leading segments and sub-segments of the global NGS informatics and clinical genomics market in 2017?
- How will each segment of the global NGS informatics and clinical genomics market grow during the forecast period, and what will be the revenue generated by each of the segments by the end of 2028?
- What are the influencing factors that may affect the market share of the leading players?
- How will the industry evolve during the forecast period 2018-2028?
- What are the key developments and strategies that are implemented by the key players to sustain in this market?
- What are the potential end users of the global NGS informatics and clinical genomics market? How NGS informatics and clinical genomics software platforms will boost the performance of different end users?
- Who are the key players in the global NGS informatics and clinical genomics market, and what are their contributions?
- What is the scope of expansion by the key players of the global NGS informatics and clinical genomics market in Asia-Pacific, Europe, and Middle East?
Furthermore, to bring the competitive landscape of NGS informatics and clinical genomics market into perspective, there is a wide range of providers competing under different sub-segments of the market. For example, there are primary and secondary data analysis tools providers such as Illumina (primary and secondary), ThermoFisher (primary and secondary), Qiagen (primary and secondary), Edico Genome (secondary only), and Genalice among others. In addition, there is a plethora of companies providing storage and computing solutions (such as Google Cloud, Amazon Web Services and Microsoft, among others), LIMS solutions (such as Thermo Scientific Clinical LIMS, Core LIMS, and STARLIMS, among others) and data interpretation and reporting tools (such as Qiagen (QCI Interpret), Genoox, and Annai Systems, among others)