Long-read sequencing in deciphering human genetics to a greater depth

Through four decades’ development, DNA sequencing has inched into the era of single-molecule sequencing (SMS), or the third-generation sequencing (TGS), as represented by two distinct technical approaches developed independently by Pacific Bioscience (PacBio) and Oxford Nanopore Technologies (ONT)....

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Published inHuman genetics Vol. 138; no. 11-12; pp. 1201 - 1215
Main Authors Midha, Mohit K., Wu, Mengchu, Chiu, Kuo-Ping
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.12.2019
Springer
Springer Nature B.V
Subjects
Biomedical and Life Sciences
Biomedicine
Deoxyribonucleic acid
DNA
DNA sequencing
Gene Function
Genome, Human
Genomes
Genomics
High-Throughput Nucleotide Sequencing - methods
Human Genetics
Humans
Metabolic Diseases
Molecular Medicine
Next-generation sequencing
Nucleotide sequence
Nucleotide sequencing
Review
Ribonucleic acid
RNA
RNA sequencing
Sequence Analysis, DNA - methods
Technology application
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Summary:Through four decades’ development, DNA sequencing has inched into the era of single-molecule sequencing (SMS), or the third-generation sequencing (TGS), as represented by two distinct technical approaches developed independently by Pacific Bioscience (PacBio) and Oxford Nanopore Technologies (ONT). Historically, each generation of sequencing technologies was marked by innovative technological achievements and novel applications. Long reads (LRs) are considered as the most advantageous feature of SMS shared by both PacBio and ONT to distinguish SMS from next-generation sequencing (NGS, or the second-generation sequencing) and Sanger sequencing (the first-generation sequencing). Long reads overcome the limitations of NGS and drastically improves the quality of genome assembly. Besides, ONT also contributes several unique features including ultra-long reads (ULRs) with read length above 300 kb and some close to 1 million bp, direct RNA sequencing and superior portability as made possible by pocket-sized MinION sequencer. Here, we review the history of DNA sequencing technologies and associated applications, with a special focus on the advantages as well as the limitations of ULR sequencing in genome assembly.
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ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-019-02064-y