The potential impact of nanopore sequencing on human genetics | Zendy

Matthew Loose | Zendy

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The potential impact of nanopore sequencing on human genetics

Author(s) -

Matthew Loose

Publication year - 2017

Publication title -

human molecular genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.811

H-Index - 276

eISSN - 1460-2083

pISSN - 0964-6906

DOI - 10.1093/hmg/ddx287

Subject(s) - nanopore sequencing , biology , milestone , nanopore , dna sequencing , computational biology , genomics , human genome , genome , genetics , nanotechnology , gene , history , materials science , archaeology

Nanopore sequencing has been available to researchers for a little over 3 years. Recently, the milestone of sequencing and assembling a human genome on this platform was achieved for the first time. Significant improvements to the platform in yield and accuracy, coupled with higher throughput nanopore sequencers, mean that human genome sequencing at scale is now possible. Here, a brief recent history of the nanopore platform is provided, key papers and innovations are highlighted and some of the challenges for the future are discussed.

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