Literature DB >> 24074859

The next-generation sequencing revolution and its impact on genomics.

Daniel C Koboldt1, Karyn Meltz Steinberg, David E Larson, Richard K Wilson, Elaine R Mardis.   

Abstract

Genomics is a relatively new scientific discipline, having DNA sequencing as its core technology. As technology has improved the cost and scale of genome characterization over sequencing's 40-year history, the scope of inquiry has commensurately broadened. Massively parallel sequencing has proven revolutionary, shifting the paradigm of genomics to address biological questions at a genome-wide scale. Sequencing now empowers clinical diagnostics and other aspects of medical care, including disease risk, therapeutic identification, and prenatal testing. This Review explores the current state of genomics in the massively parallel sequencing era.
Copyright © 2013 Elsevier Inc. All rights reserved.

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Year:  2013        PMID: 24074859      PMCID: PMC3969849          DOI: 10.1016/j.cell.2013.09.006

Source DB:  PubMed          Journal:  Cell        ISSN: 0092-8674            Impact factor:   41.582


  123 in total

Review 1.  Linkage analysis in the next-generation sequencing era.

Authors:  Joan E Bailey-Wilson; Alexander F Wilson
Journal:  Hum Hered       Date:  2011-12-23       Impact factor: 0.444

2.  Optimal tests for rare variant effects in sequencing association studies.

Authors:  Seunggeun Lee; Michael C Wu; Xihong Lin
Journal:  Biostatistics       Date:  2012-06-14       Impact factor: 5.899

3.  Mapping short DNA sequencing reads and calling variants using mapping quality scores.

Authors:  Heng Li; Jue Ruan; Richard Durbin
Journal:  Genome Res       Date:  2008-08-19       Impact factor: 9.043

4.  A data-driven method for identifying rare variants with heterogeneous trait effects.

Authors:  Qunyuan Zhang; Marguerite R Irvin; Donna K Arnett; Michael A Province; Ingrid Borecki
Journal:  Genet Epidemiol       Date:  2011-08-04       Impact factor: 2.135

5.  A SNP discovery method to assess variant allele probability from next-generation resequencing data.

Authors:  Yufeng Shen; Zhengzheng Wan; Cristian Coarfa; Rafal Drabek; Lei Chen; Elizabeth A Ostrowski; Yue Liu; George M Weinstock; David A Wheeler; Richard A Gibbs; Fuli Yu
Journal:  Genome Res       Date:  2009-12-17       Impact factor: 9.043

Review 6.  Next-generation sequencing platforms.

Authors:  Elaine R Mardis
Journal:  Annu Rev Anal Chem (Palo Alto Calif)       Date:  2013       Impact factor: 10.745

7.  The patterns and dynamics of genomic instability in metastatic pancreatic cancer.

Authors:  Peter J Campbell; Shinichi Yachida; Laura J Mudie; Philip J Stephens; Erin D Pleasance; Lucy A Stebbings; Laura A Morsberger; Calli Latimer; Stuart McLaren; Meng-Lay Lin; David J McBride; Ignacio Varela; Serena A Nik-Zainal; Catherine Leroy; Mingming Jia; Andrew Menzies; Adam P Butler; Jon W Teague; Constance A Griffin; John Burton; Harold Swerdlow; Michael A Quail; Michael R Stratton; Christine Iacobuzio-Donahue; P Andrew Futreal
Journal:  Nature       Date:  2010-10-28       Impact factor: 49.962

8.  Whole-exome-sequencing-based discovery of human FADD deficiency.

Authors:  Alexandre Bolze; Minji Byun; David McDonald; Neil V Morgan; Avinash Abhyankar; Lakshmanane Premkumar; Anne Puel; Chris M Bacon; Frédéric Rieux-Laucat; Ki Pang; Alison Britland; Laurent Abel; Andrew Cant; Eamonn R Maher; Stefan J Riedl; Sophie Hambleton; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2010-11-25       Impact factor: 11.025

9.  Evaluation of DNA from the Papanicolaou test to detect ovarian and endometrial cancers.

Authors:  Isaac Kinde; Chetan Bettegowda; Yuxuan Wang; Jian Wu; Nishant Agrawal; Ie-Ming Shih; Robert Kurman; Fanny Dao; Douglas A Levine; Robert Giuntoli; Richard Roden; James R Eshleman; Jesus Paula Carvalho; Suely Kazue Nagahashi Marie; Nickolas Papadopoulos; Kenneth W Kinzler; Bert Vogelstein; Luis A Diaz
Journal:  Sci Transl Med       Date:  2013-01-09       Impact factor: 17.956

10.  Apolipoprotein E type epsilon 4 allele frequency is not increased in patients with sporadic inclusion-body myositis.

Authors:  C R Harrington; J R Anderson; K K Chan
Journal:  Neurosci Lett       Date:  1995-01-02       Impact factor: 3.046

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  311 in total

Review 1.  The long tail and rare disease research: the impact of next-generation sequencing for rare Mendelian disorders.

Authors:  Tony Shen; Ariel Lee; Carol Shen; C Jimmy Lin
Journal:  Genet Res (Camb)       Date:  2015-09-14       Impact factor: 1.588

2.  Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch?

Authors:  Chris Dulla
Journal:  Epilepsy Curr       Date:  2015 Sep-Oct       Impact factor: 7.500

3.  Challenges of using next generation sequencing in newborn screening.

Authors:  Eyal Reinstein
Journal:  Genet Res (Camb)       Date:  2015-11-02       Impact factor: 1.588

4.  RAD Capture (Rapture): Flexible and Efficient Sequence-Based Genotyping.

Authors:  Omar A Ali; Sean M O'Rourke; Stephen J Amish; Mariah H Meek; Gordon Luikart; Carson Jeffres; Michael R Miller
Journal:  Genetics       Date:  2015-12-29       Impact factor: 4.562

Review 5.  Genomics of Immune Diseases and New Therapies.

Authors:  Michael Lenardo; Bernice Lo; Carrie L Lucas
Journal:  Annu Rev Immunol       Date:  2015-12-23       Impact factor: 28.527

Review 6.  Exploring the genetic basis of early-onset chronic kidney disease.

Authors:  Asaf Vivante; Friedhelm Hildebrandt
Journal:  Nat Rev Nephrol       Date:  2016-01-11       Impact factor: 28.314

Review 7.  Unravelling the genomic targets of small molecules using high-throughput sequencing.

Authors:  Raphaël Rodriguez; Kyle M Miller
Journal:  Nat Rev Genet       Date:  2014-10-14       Impact factor: 53.242

8.  Next-generation transcriptome sequencing, SNP discovery and validation in four market classes of peanut, Arachis hypogaea L.

Authors:  Ratan Chopra; Gloria Burow; Andrew Farmer; Joann Mudge; Charles E Simpson; Thea A Wilkins; Michael R Baring; Naveen Puppala; Kelly D Chamberlin; Mark D Burow
Journal:  Mol Genet Genomics       Date:  2015-02-07       Impact factor: 3.291

Review 9.  MicroRNAs in normal and psoriatic skin.

Authors:  Jing Xia; Weixiong Zhang
Journal:  Physiol Genomics       Date:  2013-12-10       Impact factor: 3.107

Review 10.  Applied equine genetics.

Authors:  C J Finno; D L Bannasch
Journal:  Equine Vet J       Date:  2014-06-25       Impact factor: 2.888

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