![]() ![]() RNA-Seq is a cross and interdisciplinary method that interconnects biology to other scientific topics. As RNA-Seq approaches increase in speed and decrease in cost, more distinct researches are applied and become more common and accurate. ![]() Furthermore, some of the potential applications for RNA-Seq cannot be conducted by other methods and as yet are unique to RNA-Seq. RNA-Seq also contributes a more accurate gene expression and transcript isoform estimation than other methods. From 2008, as its introduction year, the relevant reports on RNA-Seq have been multiplied by more than 2822 times just in 6 years. RNA-Seq studies have shown the transcriptome magnitude, notion and complexity. In recent years, RNA-Seq has been the method of choice for profiling dynamic transcriptome taking advantage of high throughput sequencing technologies. The data produced by RNA-Seq, sequencing technologies and use of bioinformatics are exploding rapidly. RNA Sequencing (RNA-Seq) is a newly born tool that has revolutionized the post-genomic era. Therefore, we expect these data to be useful for revealing novel information about the human genome and improving sequencing technologies, SNP, indel, and structural variant calling, and de novo assembly. Cell lines, DNA, and data from these individuals are publicly available. The data come from 12 technologies: BioNano Genomics, Complete Genomics paired-end and LFR, Ion Proton exome, Oxford Nanopore, Pacific Biosciences, SOLiD, 10X Genomics GemCode WGS, and Illumina exome and WGS paired-end, mate-pair, and synthetic long reads. We also describe data from two Personal Genome Project trios, one of Ashkenazim Jewish ancestry and one of Chinese ancestry. The pilot genome, NA12878, has been released as NIST RM 8398. Here, we describe a large, diverse set of sequencing data for seven human genomes five are current or candidate NIST Reference Materials. The Genome in a Bottle Consortium, hosted by the National Institute of Standards and Technology (NIST) is creating reference materials and data for human genome sequencing, as well as methods for genome comparison and benchmarking. ![]() In this chapter, the advances, applications, and challenges of NGS are reviewed starting with a history of first-generation sequencing fol‐ lowed by the major NGS platforms, the bioinformatics issues confronting NGS data stor‐ age and analysis, and the impacts made in the fields of genetics, biology, agriculture, and medicine in the brave, new world of " omics. NGS today is more than ever about how dif‐ ferent organisms use genetic information and molecular biology to survive and repro‐ duce with and without mutations, disease, and diversity within their population networks and changing environments. The vast amounts of data generated by NGS have broadened our understanding of structural and functional genomics through the concepts of " omics " ranging from basic genomics to in‐ tegrated systeomics, providing new insight into the workings and meaning of genetic conservation and diversity of living things. NGS is the choice for large-scale genomic and transcriptomic sequencing because of the high-throughput production and outputs of sequencing data in the gigabase range per instrument run and the lower cost compared to the traditional Sanger first-generation sequencing method. Next-generation sequencing (NGS) technologies using DNA, RNA, or methylation se‐ quencing have impacted enormously on the life sciences. ![]()
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