July 7, 2019  |  

The state of whole-genome sequencing

Authors: Dervan, Andrew and Shendure, Jay

Over the last decade, a technological paradigm shift has slashed the cost of DNA sequencing by over five orders of magnitude. Today, the cost of sequencing a human genome is a few thousand dollars, and it continues to fall. Here, we review the most cost-effective platforms for whole-genome sequencing (WGS) as well as emerging technologies that may displace or complement these. We also discuss the practical challenges of generating and analyzing WGS data, and how WGS has unlocked new strategies for discovering genes and variants underlying both rare and common human diseases.

DOI: 10.1016/B978-0-12-800681-8.00003-7
Year: 2017

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