Literature DB >> 27099173

A research roadmap for next-generation sequencing informatics.

Russ B Altman1, Snehit Prabhu2, Arend Sidow3, Justin M Zook4, Rachel Goldfeder5, David Litwack6, Euan Ashley7, George Asimenos8, Carlos D Bustamante2, Katherine Donigan6, Kathleen M Giacomini9, Elaine Johansen6, Natalia Khuri10, Eunice Lee6, Xueying Sharon Liang6, Marc Salit11, Omar Serang8, Zivana Tezak6, Dennis P Wall12, Elizabeth Mansfield6, Taha Kass-Hout6.   

Abstract

Next-generation sequencing technologies are fueling a wave of new diagnostic tests. Progress on a key set of nine research challenge areas will help generate the knowledge required to advance effectively these diagnostics to the clinic.
Copyright © 2016, American Association for the Advancement of Science.

Entities:  

Mesh：

Year:  2016        PMID： 27099173      PMCID： PMC6233899          DOI： 10.1126/scitranslmed.aaf7314

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN： 1946-6234            Impact factor:   17.956


  4 in total

Review 1.  DNA/RNA preparation for molecular detection.

Authors:  Stephanie A Thatcher
Journal:  Clin Chem       Date:  2014-12-01       Impact factor: 8.327

2.  Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls.

Authors:  Justin M Zook; Brad Chapman; Jason Wang; David Mittelman; Oliver Hofmann; Winston Hide; Marc Salit
Journal:  Nat Biotechnol       Date:  2014-02-16       Impact factor: 54.908

3.  ART: a next-generation sequencing read simulator.

Authors:  Weichun Huang; Leping Li; Jason R Myers; Gabor T Marth
Journal:  Bioinformatics       Date:  2011-12-23       Impact factor: 6.937

4.  Phased whole-genome genetic risk in a family quartet using a major allele reference sequence.

Authors:  Frederick E Dewey; Rong Chen; Sergio P Cordero; Kelly E Ormond; Colleen Caleshu; Konrad J Karczewski; Michelle Whirl-Carrillo; Matthew T Wheeler; Joel T Dudley; Jake K Byrnes; Omar E Cornejo; Joshua W Knowles; Mark Woon; Katrin Sangkuhl; Li Gong; Caroline F Thorn; Joan M Hebert; Emidio Capriotti; Sean P David; Aleksandra Pavlovic; Anne West; Joseph V Thakuria; Madeleine P Ball; Alexander W Zaranek; Heidi L Rehm; George M Church; John S West; Carlos D Bustamante; Michael Snyder; Russ B Altman; Teri E Klein; Atul J Butte; Euan A Ashley
Journal:  PLoS Genet       Date:  2011-09-15       Impact factor: 5.917
  4 in total
  15 in total

Review 1.  Enabling Technologies for Personalized and Precision Medicine.

Authors:  Dean Ho; Stephen R Quake; Edward R B McCabe; Wee Joo Chng; Edward K Chow; Xianting Ding; Bruce D Gelb; Geoffrey S Ginsburg; Jason Hassenstab; Chih-Ming Ho; William C Mobley; Garry P Nolan; Steven T Rosen; Patrick Tan; Yun Yen; Ali Zarrinpar
Journal:  Trends Biotechnol       Date:  2020-01-21       Impact factor: 19.536

Review 2.  Reference standards for next-generation sequencing.

Authors:  Simon A Hardwick; Ira W Deveson; Tim R Mercer
Journal:  Nat Rev Genet       Date:  2017-06-19       Impact factor: 53.242

3.  Leveraging the health information technology infrastructure to advance federal research priorities.

Authors:  Teresa Zayas-Cabán; Amy P Abernethy; Patricia Flatley Brennan; Stephanie Devaney; Anthony R Kerlavage; Rachel Ramoni; P Jon White
Journal:  J Am Med Inform Assoc       Date:  2020-04-01       Impact factor: 4.497

Review 4.  Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio.

Authors:  Teri A Manolio
Journal:  Atherosclerosis       Date:  2016-08-26       Impact factor: 5.162

5.  OSG-GEM: Gene Expression Matrix Construction Using the Open Science Grid.

Authors:  William L Poehlman; Mats Rynge; Chris Branton; D Balamurugan; Frank A Feltus
Journal:  Bioinform Biol Insights       Date:  2016-08-02

Review 6.  Omics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism Investigations.

Authors:  Abdellah Tebani; Carlos Afonso; Stéphane Marret; Soumeya Bekri
Journal:  Int J Mol Sci       Date:  2016-09-14       Impact factor: 5.923

Review 7.  Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities.

Authors:  Jacques S Beckmann; Daniel Lew
Journal:  Genome Med       Date:  2016-12-19       Impact factor: 11.117

Review 8.  A Survey of Computational Tools to Analyze and Interpret Whole Exome Sequencing Data.

Authors:  Jennifer D Hintzsche; William A Robinson; Aik Choon Tan
Journal:  Int J Genomics       Date:  2016-12-14       Impact factor: 2.326

9.  Current progress and future opportunities in applications of bioinformatics for biodefense and pathogen detection: report from the Winter Mid-Atlantic Microbiome Meet-up, College Park, MD, January 10, 2018.

Authors:  Jacquelyn S Meisel; Daniel J Nasko; Brian Brubach; Victoria Cepeda-Espinoza; Jessica Chopyk; Héctor Corrada-Bravo; Marcus Fedarko; Jay Ghurye; Kiran Javkar; Nathan D Olson; Nidhi Shah; Sarah M Allard; Adam L Bazinet; Nicholas H Bergman; Alexis Brown; J Gregory Caporaso; Sean Conlan; Jocelyne DiRuggiero; Samuel P Forry; Nur A Hasan; Jason Kralj; Paul M Luethy; Donald K Milton; Brian D Ondov; Sarah Preheim; Shashikala Ratnayake; Stephanie M Rogers; M J Rosovitz; Eric G Sakowski; Nils Oliver Schliebs; Daniel D Sommer; Krista L Ternus; Gherman Uritskiy; Sean X Zhang; Mihai Pop; Todd J Treangen
Journal:  Microbiome       Date:  2018-11-05       Impact factor: 14.650

10.  The CAMH Neuroinformatics Platform: A Hospital-Focused Brain-CODE Implementation.

Authors:  David J Rotenberg; Qing Chang; Natalia Potapova; Andy Wang; Marcia Hon; Marcos Sanches; Nikola Bogetic; Nathan Frias; Tommy Liu; Brendan Behan; Rachad El-Badrawi; Stephen C Strother; Susan G Evans; Jordan Mikkelsen; Tom Gee; Fan Dong; Stephen R Arnott; Shuai Laing; Moyez Dharsee; Anthony L Vaccarino; Mojib Javadi; Kenneth R Evans; Damian Jankowicz
Journal:  Front Neuroinform       Date:  2018-11-06       Impact factor: 4.081
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