Literature DB >> 21914469

Next-generation sequencing entering the clinical arena.

Jan Haas1, Hugo A Katus, Benjamin Meder.   

Abstract

Over the last decade the genetic etiology of many heritable diseases could be resolved. For heart muscle diseases, so called cardiomyopathies, mutations in more than 40 different genes have been identified. Due to this large genetic heterogeneity and missing of adequate gene-diagnostic tools, most patients are not genetically characterized, which would be important for individualized patient care. Currently, next-generation sequencing technologies are revolutionizing genetic and epigenetic research, since they are capable to produce billions of bases of sequence information in a single experiment. Accordingly, this powerful technology can now also open avenues for genetic diagnostics. The scope of this article is to illustrate technical approaches, clinical applications, and yet unsolved problems of next-generation sequencing entering the clinical arena. Copyright Â
© 2011 Elsevier Ltd. All rights reserved.

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Year:  2011        PMID: 21914469     DOI: 10.1016/j.mcp.2011.08.005

Source DB:  PubMed          Journal:  Mol Cell Probes        ISSN: 0890-8508            Impact factor:   2.365


  11 in total

1.  [Clinical and genetic aspects of hypertrophic and dilated cardiomyopathy].

Authors:  B Meder; H A Katus
Journal:  Internist (Berl)       Date:  2012-04       Impact factor: 0.743

Review 2.  Liquid biopsy: monitoring cancer-genetics in the blood.

Authors:  Emily Crowley; Federica Di Nicolantonio; Fotios Loupakis; Alberto Bardelli
Journal:  Nat Rev Clin Oncol       Date:  2013-07-09       Impact factor: 66.675

Review 3.  Genetic cardiomyopathies. Lessons learned from humans, mice, and zebrafish.

Authors:  W Kloos; H A Katus; B Meder
Journal:  Herz       Date:  2012-09       Impact factor: 1.443

4.  Genomic architecture and treatment outcome in pediatric acute myeloid leukemia: a Children's Oncology Group report.

Authors:  Marijana Vujkovic; Edward F Attiyeh; Rhonda E Ries; Elizabeth K Goodman; Yang Ding; Marko Kavcic; Todd A Alonzo; Yi-Cheng Wang; Robert B Gerbing; Lillian Sung; Betsy Hirsch; Susana Raimondi; Alan S Gamis; Soheil Meshinchi; Richard Aplenc
Journal:  Blood       Date:  2017-04-14       Impact factor: 22.113

Review 5.  Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

Authors:  Gert Matthijs; Daisy Rymen; María Beatriz Bistué Millón; Erika Souche; Valérie Race
Journal:  Glycoconj J       Date:  2012-09-15       Impact factor: 2.916

6.  How to build an integrated biobank: the Washington University Translational Cardiovascular Biobank & Repository experience.

Authors:  Kathryn A Yamada; Akshar Y Patel; Gregory A Ewald; Donna S Whitehead; Michael K Pasque; Scott C Silvestry; Deborah L Janks; Douglas L Mann; Jeanne M Nerbonne
Journal:  Clin Transl Sci       Date:  2013-04-18       Impact factor: 4.689

7.  High-throughput multilocus sequence typing: bringing molecular typing to the next level.

Authors:  Stefan A Boers; Wil A van der Reijden; Ruud Jansen
Journal:  PLoS One       Date:  2012-07-18       Impact factor: 3.240

8.  Novel Phenotype-Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing.

Authors:  Wei Wu; Chao-Xia Lu; Yi-Ning Wang; Fang Liu; Wei Chen; Yong-Tai Liu; Ye-Chen Han; Jian Cao; Shu-Yang Zhang; Xue Zhang
Journal:  J Am Heart Assoc       Date:  2015-07-10       Impact factor: 5.501

9.  Next generation sequence analysis and computational genomics using graphical pipeline workflows.

Authors:  Federica Torri; Ivo D Dinov; Alen Zamanyan; Sam Hobel; Alex Genco; Petros Petrosyan; Andrew P Clark; Zhizhong Liu; Paul Eggert; Jonathan Pierce; James A Knowles; Joseph Ames; Carl Kesselman; Arthur W Toga; Steven G Potkin; Marquis P Vawter; Fabio Macciardi
Journal:  Genes (Basel)       Date:  2012-08-30       Impact factor: 4.096

10.  Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.

Authors:  Joakim Crona; Alberto Delgado Verdugo; Dan Granberg; Staffan Welin; Peter Stålberg; Per Hellman; Peyman Björklund
Journal:  Endocr Connect       Date:  2013-05-28       Impact factor: 3.335

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