Literature DB >> 27638353

Clinical Versus Research Sequencing.

Yuriy Shevchenko1, Sherri Bale1.   

Abstract

Historically, sequencing has been the key technology to assess variation in the genetic code, and has been widely accepted in clinical diagnostics of genetic disease. The advent of next-generation sequencing (NGS) methods increased the size of the analyzed target by several orders of magnitude, while at the same time drastically reducing the cost of sequencing. Current research allows sequencing of germline and tumor whole genomes. However, with the arrival of cutting-edge technology to the clinical diagnostic field, strict regulatory oversight is required to use the advances of the latest research when applied to routine clinical practice. We discuss the differences between sequencing in a research setting and sequencing in a clinical diagnostics setting, as applied to next-generation technology.
Copyright © 2016 Cold Spring Harbor Laboratory Press; all rights reserved.

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Year:  2016        PMID: 27638353      PMCID: PMC5088511          DOI: 10.1101/cshperspect.a025809

Source DB:  PubMed          Journal:  Cold Spring Harb Perspect Med        ISSN: 2157-1422            Impact factor:   6.915


  34 in total

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Journal:  Nat Biotechnol       Date:  2012-05       Impact factor: 54.908

2.  Assembly of large genomes using second-generation sequencing.

Authors:  Michael C Schatz; Arthur L Delcher; Steven L Salzberg
Journal:  Genome Res       Date:  2010-05-27       Impact factor: 9.043

3.  Direct selection of human genomic loci by microarray hybridization.

Authors:  Thomas J Albert; Michael N Molla; Donna M Muzny; Lynne Nazareth; David Wheeler; Xingzhi Song; Todd A Richmond; Chris M Middle; Matthew J Rodesch; Charles J Packard; George M Weinstock; Richard A Gibbs
Journal:  Nat Methods       Date:  2007-10-14       Impact factor: 28.547

4.  Accurate and comprehensive sequencing of personal genomes.

Authors:  Subramanian S Ajay; Stephen C J Parker; Hatice Ozel Abaan; Karin V Fuentes Fajardo; Elliott H Margulies
Journal:  Genome Res       Date:  2011-07-19       Impact factor: 9.043

5.  Field guide to next-generation DNA sequencers.

Authors:  Travis C Glenn
Journal:  Mol Ecol Resour       Date:  2011-05-19       Impact factor: 7.090

6.  Analysis of DNA sequence variants detected by high-throughput sequencing.

Authors:  David R Adams; Murat Sincan; Karin Fuentes Fajardo; James C Mullikin; Tyler M Pierson; Camilo Toro; Cornelius F Boerkoel; Cynthia J Tifft; William A Gahl; Tom C Markello
Journal:  Hum Mutat       Date:  2012-02-28       Impact factor: 4.878

Review 7.  Commercial landscape of noninvasive prenatal testing in the United States.

Authors:  Ashwin Agarwal; Lauren C Sayres; Mildred K Cho; Robert Cook-Deegan; Subhashini Chandrasekharan
Journal:  Prenat Diagn       Date:  2013-06       Impact factor: 3.050

8.  Multiplex amplification of large sets of human exons.

Authors:  Gregory J Porreca; Kun Zhang; Jin Billy Li; Bin Xie; Derek Austin; Sara L Vassallo; Emily M LeProust; Bill J Peck; Christopher J Emig; Fredrik Dahl; Yuan Gao; George M Church; Jay Shendure
Journal:  Nat Methods       Date:  2007-10-14       Impact factor: 28.547

Review 9.  Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Authors:  Yuan Xue; Arunkanth Ankala; William R Wilcox; Madhuri R Hegde
Journal:  Genet Med       Date:  2014-09-18       Impact factor: 8.822

10.  A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers.

Authors:  Michael A Quail; Miriam Smith; Paul Coupland; Thomas D Otto; Simon R Harris; Thomas R Connor; Anna Bertoni; Harold P Swerdlow; Yong Gu
Journal:  BMC Genomics       Date:  2012-07-24       Impact factor: 3.969

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  8 in total

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Authors:  James T Yurkovich; Qiang Tian; Nathan D Price; Leroy Hood
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2.  Privacy and ethical challenges in next-generation sequencing.

Authors:  Nicole Martinez-Martin; David Magnus
Journal:  Expert Rev Precis Med Drug Dev       Date:  2019-04-08

3.  Precision oncology: lessons learned and challenges for the future.

Authors:  Hsih-Te Yang; Ronak H Shah; David Tegay; Kenan Onel
Journal:  Cancer Manag Res       Date:  2019-08-07       Impact factor: 3.989

4.  Genomic Sequencing Capacity, Data Retention, and Personal Access to Raw Data in Europe.

Authors:  Shaman Narayanasamy; Varvara Markina; Adrian Thorogood; Adriana Blazkova; Mahsa Shabani; Bartha M Knoppers; Barbara Prainsack; Robert Koesters
Journal:  Front Genet       Date:  2020-05-06       Impact factor: 4.599

5.  Data sharing for clinical utility.

Authors:  Isabel Bjork; Jennifer Peralez; David Haussler; Sheri L Spunt; Olena Morozova Vaske
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-10-23

6.  Diagnosis of Taenia solium infections based on "mail order" RNA-sequencing of single tapeworm egg isolates from stool samples.

Authors:  Henrik Sadlowski; Veronika Schmidt; Jonathan Hiss; Johannes A Kuehn; Christian G Schneider; Gideon Zulu; Alex Hachangu; Chummy S Sikasunge; Kabemba E Mwape; Andrea S Winkler; Markus Schuelke
Journal:  PLoS Negl Trop Dis       Date:  2021-12-10

Review 7.  Discovery through clinical sequencing in oncology.

Authors:  Mark T A Donoghue; Alison M Schram; David M Hyman; Barry S Taylor
Journal:  Nat Cancer       Date:  2020-08-10

8.  Children's rare disease cohorts: an integrative research and clinical genomics initiative.

Authors:  Shira Rockowitz; Nicholas LeCompte; Mary Carmack; Andrew Quitadamo; Lily Wang; Meredith Park; Devon Knight; Emma Sexton; Lacey Smith; Beth Sheidley; Michael Field; Ingrid A Holm; Catherine A Brownstein; Pankaj B Agrawal; Susan Kornetsky; Annapurna Poduri; Scott B Snapper; Alan H Beggs; Timothy W Yu; David A Williams; Piotr Sliz
Journal:  NPJ Genom Med       Date:  2020-07-06       Impact factor: 8.617

  8 in total

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