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Literature DB >> 24021669

Massively parallel sequencing: the new frontier of hematologic genomics.

Jill M Johnsen¹, Deborah A Nickerson, Alex P Reiner.

Abstract

Genomic technologies are becoming a routine part of human genetic analysis. The exponential growth in DNA sequencing capability has brought an unprecedented understanding of human genetic variation and the identification of thousands of variants that impact human health. In this review, we describe the different types of DNA variation and provide an overview of existing DNA sequencing technologies and their applications. As genomic technologies and knowledge continue to advance, they will become integral in clinical practice. To accomplish the goal of personalized genomic medicine for patients, close collaborations between researchers and clinicians will be essential to develop and curate deep databases of genetic variation and their associated phenotypes.

Entities: Species

Mesh：

Substances：
DNA

Year: 2013 PMID： 24021669 PMCID： PMC3953088 DOI： 10.1182/blood-2013-07-460287

Source DB: PubMed Journal: Blood ISSN： 0006-4971 Impact factor: 22.113

85 in total

1. An integrated semiconductor device enabling non-optical genome sequencing.

Authors: Jonathan M Rothberg; Wolfgang Hinz; Todd M Rearick; Jonathan Schultz; William Mileski; Mel Davey; John H Leamon; Kim Johnson; Mark J Milgrew; Matthew Edwards; Jeremy Hoon; Jan F Simons; David Marran; Jason W Myers; John F Davidson; Annika Branting; John R Nobile; Bernard P Puc; David Light; Travis A Clark; Martin Huber; Jeffrey T Branciforte; Isaac B Stoner; Simon E Cawley; Michael Lyons; Yutao Fu; Nils Homer; Marina Sedova; Xin Miao; Brian Reed; Jeffrey Sabina; Erika Feierstein; Michelle Schorn; Mohammad Alanjary; Eileen Dimalanta; Devin Dressman; Rachel Kasinskas; Tanya Sokolsky; Jacqueline A Fidanza; Eugeni Namsaraev; Kevin J McKernan; Alan Williams; G Thomas Roth; James Bustillo
Journal: Nature Date: 2011-07-20 Impact factor: 49.962

2. Extensive promoter-centered chromatin interactions provide a topological basis for transcription regulation.

Authors: Guoliang Li; Xiaoan Ruan; Raymond K Auerbach; Kuljeet Singh Sandhu; Meizhen Zheng; Ping Wang; Huay Mei Poh; Yufen Goh; Joanne Lim; Jingyao Zhang; Hui Shan Sim; Su Qin Peh; Fabianus Hendriyan Mulawadi; Chin Thing Ong; Yuriy L Orlov; Shuzhen Hong; Zhizhuo Zhang; Steve Landt; Debasish Raha; Ghia Euskirchen; Chia-Lin Wei; Weihong Ge; Huaien Wang; Carrie Davis; Katherine I Fisher-Aylor; Ali Mortazavi; Mark Gerstein; Thomas Gingeras; Barbara Wold; Yi Sun; Melissa J Fullwood; Edwin Cheung; Edison Liu; Wing-Kin Sung; Michael Snyder; Yijun Ruan
Journal: Cell Date: 2012-01-20 Impact factor: 41.582

3. Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors: Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal: Sci Transl Med Date: 2011-01-12 Impact factor: 17.956

Review 4. An introduction to epigenetics.

Authors: Esteban Ballestar
Journal: Adv Exp Med Biol Date: 2011 Impact factor: 2.622

Review 5. Genome structural variation discovery and genotyping.

Authors: Can Alkan; Bradley P Coe; Evan E Eichler
Journal: Nat Rev Genet Date: 2011-03-01 Impact factor: 53.242

6. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Authors: Elizabeth A Worthey; Alan N Mayer; Grant D Syverson; Daniel Helbling; Benedetta B Bonacci; Brennan Decker; Jaime M Serpe; Trivikram Dasu; Michael R Tschannen; Regan L Veith; Monica J Basehore; Ulrich Broeckel; Aoy Tomita-Mitchell; Marjorie J Arca; James T Casper; David A Margolis; David P Bick; Martin J Hessner; John M Routes; James W Verbsky; Howard J Jacob; David P Dimmock
Journal: Genet Med Date: 2011-03 Impact factor: 8.822

7. New gene functions in megakaryopoiesis and platelet formation.

Authors: Christian Gieger; Aparna Radhakrishnan; Ana Cvejic; Weihong Tang; Eleonora Porcu; Giorgio Pistis; Jovana Serbanovic-Canic; Ulrich Elling; Alison H Goodall; Yann Labrune; Lorna M Lopez; Reedik Mägi; Stuart Meacham; Yukinori Okada; Nicola Pirastu; Rossella Sorice; Alexander Teumer; Katrin Voss; Weihua Zhang; Ramiro Ramirez-Solis; Joshua C Bis; David Ellinghaus; Martin Gögele; Jouke-Jan Hottenga; Claudia Langenberg; Peter Kovacs; Paul F O'Reilly; So-Youn Shin; Tõnu Esko; Jaana Hartiala; Stavroula Kanoni; Federico Murgia; Afshin Parsa; Jonathan Stephens; Pim van der Harst; C Ellen van der Schoot; Hooman Allayee; Antony Attwood; Beverley Balkau; François Bastardot; Saonli Basu; Sebastian E Baumeister; Ginevra Biino; Lorenzo Bomba; Amélie Bonnefond; François Cambien; John C Chambers; Francesco Cucca; Pio D'Adamo; Gail Davies; Rudolf A de Boer; Eco J C de Geus; Angela Döring; Paul Elliott; Jeanette Erdmann; David M Evans; Mario Falchi; Wei Feng; Aaron R Folsom; Ian H Frazer; Quince D Gibson; Nicole L Glazer; Chris Hammond; Anna-Liisa Hartikainen; Susan R Heckbert; Christian Hengstenberg; Micha Hersch; Thomas Illig; Ruth J F Loos; Jennifer Jolley; Kay Tee Khaw; Brigitte Kühnel; Marie-Christine Kyrtsonis; Vasiliki Lagou; Heather Lloyd-Jones; Thomas Lumley; Massimo Mangino; Andrea Maschio; Irene Mateo Leach; Barbara McKnight; Yasin Memari; Braxton D Mitchell; Grant W Montgomery; Yusuke Nakamura; Matthias Nauck; Gerjan Navis; Ute Nöthlings; Ilja M Nolte; David J Porteous; Anneli Pouta; Peter P Pramstaller; Janne Pullat; Susan M Ring; Jerome I Rotter; Daniela Ruggiero; Aimo Ruokonen; Cinzia Sala; Nilesh J Samani; Jennifer Sambrook; David Schlessinger; Stefan Schreiber; Heribert Schunkert; James Scott; Nicholas L Smith; Harold Snieder; John M Starr; Michael Stumvoll; Atsushi Takahashi; W H Wilson Tang; Kent Taylor; Albert Tenesa; Swee Lay Thein; Anke Tönjes; Manuela Uda; Sheila Ulivi; Dirk J van Veldhuisen; Peter M Visscher; Uwe Völker; H-Erich Wichmann; Kerri L Wiggins; Gonneke Willemsen; Tsun-Po Yang; Jing Hua Zhao; Paavo Zitting; John R Bradley; George V Dedoussis; Paolo Gasparini; Stanley L Hazen; Andres Metspalu; Mario Pirastu; Alan R Shuldiner; L Joost van Pelt; Jaap-Jan Zwaginga; Dorret I Boomsma; Ian J Deary; Andre Franke; Philippe Froguel; Santhi K Ganesh; Marjo-Riitta Jarvelin; Nicholas G Martin; Christa Meisinger; Bruce M Psaty; Timothy D Spector; Nicholas J Wareham; Jan-Willem N Akkerman; Marina Ciullo; Panos Deloukas; Andreas Greinacher; Steve Jupe; Naoyuki Kamatani; Jyoti Khadake; Jaspal S Kooner; Josef Penninger; Inga Prokopenko; Derek Stemple; Daniela Toniolo; Lorenz Wernisch; Serena Sanna; Andrew A Hicks; Augusto Rendon; Manuel A Ferreira; Willem H Ouwehand; Nicole Soranzo
Journal: Nature Date: 2011-11-30 Impact factor: 49.962

8. A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors: Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal: Nat Genet Date: 2011-04-10 Impact factor: 38.330

9. Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition.

Authors: Andrew Adey; Hilary G Morrison; Xu Xun; Jacob O Kitzman; Emily H Turner; Bethany Stackhouse; Alexandra P MacKenzie; Nicholas C Caruccio; Xiuqing Zhang; Jay Shendure
Journal: Genome Biol Date: 2010-12-08 Impact factor: 13.583

10. Detection of structural variants and indels within exome data.

Authors: Emre Karakoc; Can Alkan; Brian J O'Roak; Megan Y Dennis; Laura Vives; Kenneth Mark; Mark J Rieder; Debbie A Nickerson; Evan E Eichler
Journal: Nat Methods Date: 2011-12-18 Impact factor: 28.547

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Authors: Joost S Vermaat; Steven T Pals; Anas Younes; Martin Dreyling; Massimo Federico; Igor Aurer; John Radford; Marie José Kersten
Journal: Haematologica Date: 2015-08 Impact factor: 9.941

2. From helix to hematology: introduction to a collection of reviews on the emerging role of next-generation sequencing in hematology.

Authors: David M Bodine
Journal: Blood Date: 2013-09-09 Impact factor: 22.113

3. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis.

Authors: Linda M Polfus; Rajiv K Khajuria; Ursula M Schick; Nathan Pankratz; Raha Pazoki; Jennifer A Brody; Ming-Huei Chen; Paul L Auer; James S Floyd; Jie Huang; Leslie Lange; Frank J A van Rooij; Richard A Gibbs; Ginger Metcalf; Donna Muzny; Narayanan Veeraraghavan; Klaudia Walter; Lu Chen; Lisa Yanek; Lewis C Becker; Gina M Peloso; Aoi Wakabayashi; Mart Kals; Andres Metspalu; Tõnu Esko; Keolu Fox; Robert Wallace; Nora Franceschini; Nena Matijevic; Kenneth M Rice; Traci M Bartz; Leo-Pekka Lyytikäinen; Mika Kähönen; Terho Lehtimäki; Olli T Raitakari; Ruifang Li-Gao; Dennis O Mook-Kanamori; Guillaume Lettre; Cornelia M van Duijn; Oscar H Franco; Stephen S Rich; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; James G Wilson; Bruce M Psaty; Nicole Soranzo; Abbas Dehghan; Eric Boerwinkle; Xiaoling Zhang; Andrew D Johnson; Christopher J O'Donnell; Jill M Johnsen; Alexander P Reiner; Santhi K Ganesh; Vijay G Sankaran
Journal: Am J Hum Genet Date: 2016-08-04 Impact factor: 11.025

4. Leveraging the new with the old: providing a framework for the integration of historic microarray studies with next generation sequencing.

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