Single molecule real-time (SMRT) sequencing comes of age: Applications and utilities for medical diagnostics

Simon Ardui, Adam Ameur, Joris R. Vermeesch, Matthew S. Hestand

Research output: Contribution to journalReview ArticleOtherpeer-review

151 Citations (Scopus)

Abstract

Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paral-ogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing.

Original languageEnglish
Pages (from-to)2159-2168
Number of pages10
JournalNucleic Acids Research
Volume46
Issue number5
DOIs
Publication statusPublished - 16 Mar 2018

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