Literature DB >> 28977449

The potential impact of nanopore sequencing on human genetics.

Matthew W Loose1.   

Abstract

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.
© The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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Year:  2017        PMID: 28977449     DOI: 10.1093/hmg/ddx287

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  7 in total

Review 1.  Next-generation sequencing: recent applications to the analysis of colorectal cancer.

Authors:  Filippo Del Vecchio; Valentina Mastroiaco; Antinisca Di Marco; Chiara Compagnoni; Daria Capece; Francesca Zazzeroni; Carlo Capalbo; Edoardo Alesse; Alessandra Tessitore
Journal:  J Transl Med       Date:  2017-12-08       Impact factor: 5.531

2.  Clinical Impact of Genomic Information in Pediatric Leukemia.

Authors:  Emilie Lalonde; Gerald Wertheim; Marilyn M Li
Journal:  Front Pediatr       Date:  2017-12-14       Impact factor: 3.418

Review 3.  Molecular diagnostics in medical mycology.

Authors:  Brian L Wickes; Nathan P Wiederhold
Journal:  Nat Commun       Date:  2018-12-03       Impact factor: 14.919

Review 4.  Uncovering Missing Heritability in Rare Diseases.

Authors:  Tatiana Maroilley; Maja Tarailo-Graovac
Journal:  Genes (Basel)       Date:  2019-04-04       Impact factor: 4.096

5.  Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.

Authors:  Wouter De Coster; Peter De Rijk; Arne De Roeck; Tim De Pooter; Svenn D'Hert; Mojca Strazisar; Kristel Sleegers; Christine Van Broeckhoven
Journal:  Genome Res       Date:  2019-06-11       Impact factor: 9.043

6.  RACS: rapid analysis of ChIP-Seq data for contig based genomes.

Authors:  Alejandro Saettone; Marcelo Ponce; Syed Nabeel-Shah; Jeffrey Fillingham
Journal:  BMC Bioinformatics       Date:  2019-10-29       Impact factor: 3.169

7.  Portable sequencing, genomic data, and scale in global emerging infectious disease surveillance.

Authors:  Liam P Shaw; Nicola C Sugden
Journal:  Geo       Date:  2018-12-01
  7 in total

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