Literature DB >> 26394651

The main challenges that remain in applying high-throughput sequencing to clinical diagnostics.

Michael Loeffelholz1, Yuriy Fofanov2.   

Abstract

Over the last 10 years, the quality, price and availability of high-throughput sequencing instruments have improved to the point that this technology may be close to becoming a routine tool in the diagnostic microbiology laboratory. Two groups of challenges, however, have to be resolved in order to move this powerful research technology into routine use in the clinical microbiology laboratory. The computational/bioinformatics challenges include data storage cost and privacy concerns, requiring analysis to be performed without access to cloud storage or expensive computational infrastructure. The logistical challenges include interpretation of complex results and acceptance and understanding of the advantages and limitations of this technology by the medical community. This article focuses on the approaches to address these challenges, such as file formats, algorithms, data collection, reporting and good laboratory practices.

Keywords:  clinical microbiology; high-throughput sequencing; novel algorithms; point-of-care diagnostics; • pathogen detection

Mesh:

Year:  2015        PMID: 26394651     DOI: 10.1586/14737159.2015.1088385

Source DB:  PubMed          Journal:  Expert Rev Mol Diagn        ISSN: 1473-7159            Impact factor:   5.225


  5 in total

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Authors:  Toni Gabaldón
Journal:  FEMS Microbiol Rev       Date:  2019-09-01       Impact factor: 16.408

2.  Pathosphere.org: pathogen detection and characterization through a web-based, open source informatics platform.

Authors:  Andy Kilianski; Patrick Carcel; Shijie Yao; Pierce Roth; Josh Schulte; Greg B Donarum; Ed T Fochler; Jessica M Hill; Alvin T Liem; Michael R Wiley; Jason T Ladner; Bradley P Pfeffer; Oliver Elliot; Alexandra Petrosov; Dereje D Jima; Tyghe G Vallard; Melanie C Melendrez; Evan Skowronski; Phenix-Lan Quan; W Ian Lipkin; Henry S Gibbons; David L Hirschberg; Gustavo F Palacios; C Nicole Rosenzweig
Journal:  BMC Bioinformatics       Date:  2015-12-29       Impact factor: 3.169

3.  Houston Methodist Variant Viewer: An Application to Support Clinical Laboratory Interpretation of Next-generation Sequencing Data for Cancer.

Authors:  Paul A Christensen; Yunyun Ni; Feifei Bao; Heather L Hendrickson; Michael Greenwood; Jessica S Thomas; S Wesley Long; Randall J Olsen
Journal:  J Pathol Inform       Date:  2017-11-23

4.  A Metataxonomic Approach Could Be Considered for Cattle Clinical Mastitis Diagnostics.

Authors:  Joanne W H Oultram; Erika K Ganda; Sarah C Boulding; Rodrigo C Bicalho; Georgios Oikonomou
Journal:  Front Vet Sci       Date:  2017-03-10

5.  Correlation between the number of false positive variants and the quality of results using Ion Torrent PGM™ sequencing to screen BRCA genes.

Authors:  Tiago César Gouvêa Moreira; Pricila Da Silva Spínola; Micheline Campos Rezende; Carla Simone Moreira de Freitas; Fábio Borges Mury; Cibele Rodrigues Bonvicino; Luciana De Andrade Agostinho
Journal:  Biomedica       Date:  2021-12-15       Impact factor: 0.935

  5 in total

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