Advances in whole genome sequencing technology
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Updated: Jan 2, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Jianhua Zhao1, Struan F A Grant
1Children's Hospital of Philadelphia Research Institute, 34th and Civic Center Blvd., Philadelphia, PA 19104, USA. zhaoj@email.chop.edu
Abstract:
Sanger sequencing revolutionized the field of genetics by becoming the standard approach to appraise a given region of the genome at base-level resolution. However, the relatively recent need to sequence entire genomes has driven innovative developments within the market-place to allow for sequencing technology to be faster, cheaper and more accurate. In this review, we will cover these recent developments from both a technical and cost perspective. Firstly, we will place sequencing in a historical context by describing how it first came to the attention of the scientific community. Next, we will address the current high-throughput technologies generally available, including Roche's 454, Illumina's Genome Analyzer, Applied BioSystem's SOLiD, Complete Genomics, Helios, Pacific Biosciences and IonTorrent. These 'next-generation' technologies also allow for applications related to target region deep sequencing, epigenetics(ChIP-seq), transcriptome sequencing (RNA-seq), megagenomics. Thus, these technologies offer unprecedented opportunities to increase our understanding of the functions and dynamics of the human genome in the near future.
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