Trends in Next-Generation Sequencing and a New Era for Whole Genome Sequencing

This article is a mini-review that provides a general overview for next-generation sequencing (NGS) and introduces one of the most popular NGS applications, whole genome sequencing (WGS), developed from the expansion of human genomics. NGS technology has brought massively high throughput sequencing data to bear on research questions, enabling a new era of genomic research. Development of bioinformatic software for NGS has provided more opportunities for researchers to use various applications in genomic fields. De novo genome assembly and large scale DNA resequencing to understand genomic variations are popular genomic research tools for processing a tremendous amount of data at low cost. Studies on transcriptomes are now available, from previous-hybridization based microarray methods. Epigenetic studies are also available with NGS applications such as whole genome methylation sequencing and chromatin immunoprecipitation followed by sequencing. Human genetics has faced a new paradigm of research and medical genomics by sequencing technologies since the Human Genome Project. The trend of NGS technologies in human genomics has brought a new era of WGS by enabling the building of human genomes databases and providing appropriate human reference genomes, which is a necessary component of personalized medicine and precision medicine.

[1]  Mark Gerstein,et al.  Diverse transcription factor binding features revealed by genome-wide ChIP-seq in C. elegans. , 2011, Genome research.

[2]  J. Lupski,et al.  The complete genome of an individual by massively parallel DNA sequencing , 2008, Nature.

[3]  Tom R. Gaunt,et al.  The UK10K project identifies rare variants in health and disease , 2016 .

[4]  Nancy F. Hansen,et al.  Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry , 2008, Nature.

[5]  J. R. Scotti,et al.  Available From , 1973 .

[6]  Metagenomics versus Moore's law , 2009, Nature Methods.

[7]  E. Eichler,et al.  Long-read sequencing and de novo assembly of a Chinese genome , 2016, Nature Communications.

[8]  M. Baker De novo genome assembly: what every biologist should know , 2012, Nature Methods.

[9]  Gabor T. Marth,et al.  A global reference for human genetic variation , 2015, Nature.

[10]  Russell E. Durrett,et al.  Assembly and diploid architecture of an individual human genome via single-molecule technologies , 2015, Nature Methods.

[11]  Thomas D. Wu,et al.  A highly annotated whole-genome sequence of a Korean individual , 2009, Nature.

[12]  C. Baer,et al.  Population genomics: genome-wide sampling of insect populations. , 2001, Annual review of entomology.

[13]  D. Goldstein,et al.  Uncovering the roles of rare variants in common disease through whole-genome sequencing , 2010, Nature Reviews Genetics.

[14]  Mark I. McCarthy,et al.  The South Asian Genome , 2014, PloS one.

[15]  Adam P. Arkin,et al.  The Genome Project-Write , 2016, Science.

[16]  C. Thermes,et al.  Ten years of next-generation sequencing technology. , 2014, Trends in genetics : TIG.

[17]  Yves Van de Peer,et al.  The Mycobacterium tuberculosis regulatory network and hypoxia , 2013, Nature.

[18]  R. Myers,et al.  Quality assessment of the human genome sequence , 2004, Nature.

[19]  S. Koren,et al.  Assembly algorithms for next-generation sequencing data. , 2010, Genomics.

[20]  F. Sanger,et al.  DNA sequencing with chain-terminating inhibitors. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[21]  Timothy B. Stockwell,et al.  The Diploid Genome Sequence of an Individual Human , 2007, PLoS biology.

[22]  M. Gerstein,et al.  RNA-Seq: a revolutionary tool for transcriptomics , 2009, Nature Reviews Genetics.

[23]  Hanlee P. Ji,et al.  Next-generation DNA sequencing , 2008, Nature Biotechnology.

[24]  P. Taberlet,et al.  The power and promise of population genomics: from genotyping to genome typing , 2003, Nature Reviews Genetics.

[25]  E. D. Hyman A new method of sequencing DNA. , 1988, Analytical biochemistry.

[26]  W. Gilbert,et al.  A new method for sequencing DNA. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[27]  Lee Murray,et al.  The 100,000 Genomes Project , 2015 .

[28]  D. Altshuler,et al.  A map of human genome variation from population-scale sequencing , 2010, Nature.

[29]  Pauline C Ng,et al.  Whole genome sequencing. , 2010, Methods in molecular biology.

[30]  Dawei Li,et al.  The diploid genome sequence of an Asian individual , 2008, Nature.