Literature DB >> 22354974

DNA sequencing: clinical applications of new DNA sequencing technologies.

Frederick E Dewey1, Stephen Pan, Matthew T Wheeler, Stephen R Quake, Euan A Ashley.   

Abstract

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Mesh：

Year:  2012        PMID： 22354974      PMCID： PMC3364518          DOI： 10.1161/CIRCULATIONAHA.110.972828

Source DB:  PubMed          Journal:  Circulation        ISSN： 0009-7322            Impact factor:   29.690


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  110 in total

1.  Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Authors:  Lucia A Hindorff; Praveen Sethupathy; Heather A Junkins; Erin M Ramos; Jayashri P Mehta; Francis S Collins; Teri A Manolio
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-27       Impact factor: 11.205

2.  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

3.  Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Authors:  Nadine Norton; Duanxiang Li; Mark J Rieder; Jill D Siegfried; Evadnie Rampersaud; Stephan Züchner; Steve Mangos; Jorge Gonzalez-Quintana; Libin Wang; Sean McGee; Jochen Reiser; Eden Martin; Deborah A Nickerson; Ray E Hershberger
Journal:  Am J Hum Genet       Date:  2011-02-25       Impact factor: 11.025

4.  Single-molecule sequencing of an individual human genome.

Authors:  Dmitry Pushkarev; Norma F Neff; Stephen R Quake
Journal:  Nat Biotechnol       Date:  2009-08-10       Impact factor: 54.908

5.  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

6.  Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

Authors:  Alexandra Götz; Henna Tyynismaa; Liliya Euro; Pekka Ellonen; Tuulia Hyötyläinen; Tiina Ojala; Riikka H Hämäläinen; Johanna Tommiska; Taneli Raivio; Matej Oresic; Riitta Karikoski; Outi Tammela; Kalle O J Simola; Anders Paetau; Tiina Tyni; Anu Suomalainen
Journal:  Am J Hum Genet       Date:  2011-05-05       Impact factor: 11.025

7.  Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

Authors:  Simon Edvardson; Avraham Shaag; Shamir Zenvirt; Yaniv Erlich; Gregory J Hannon; Alan L Shanske; John Moshe Gomori; Joseph Ekstein; Orly Elpeleg
Journal:  Am J Hum Genet       Date:  2009-12-31       Impact factor: 11.025

8.  Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Authors:  Jonathan Rios; Evan Stein; Jay Shendure; Helen H Hobbs; Jonathan C Cohen
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

9.  Large recurrent microdeletions associated with schizophrenia.

Authors:  Hreinn Stefansson; Dan Rujescu; Sven Cichon; Olli P H Pietiläinen; Andres Ingason; Stacy Steinberg; Ragnheidur Fossdal; Engilbert Sigurdsson; Thordur Sigmundsson; Jacobine E Buizer-Voskamp; Thomas Hansen; Klaus D Jakobsen; Pierandrea Muglia; Clyde Francks; Paul M Matthews; Arnaldur Gylfason; Bjarni V Halldorsson; Daniel Gudbjartsson; Thorgeir E Thorgeirsson; Asgeir Sigurdsson; Adalbjorg Jonasdottir; Aslaug Jonasdottir; Asgeir Bjornsson; Sigurborg Mattiasdottir; Thorarinn Blondal; Magnus Haraldsson; Brynja B Magnusdottir; Ina Giegling; Hans-Jürgen Möller; Annette Hartmann; Kevin V Shianna; Dongliang Ge; Anna C Need; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamarie Tuulio-Henriksson; Tiina Paunio; Timi Toulopoulou; Elvira Bramon; Marta Di Forti; Robin Murray; Mirella Ruggeri; Evangelos Vassos; Sarah Tosato; Muriel Walshe; Tao Li; Catalina Vasilescu; Thomas W Mühleisen; August G Wang; Henrik Ullum; Srdjan Djurovic; Ingrid Melle; Jes Olesen; Lambertus A Kiemeney; Barbara Franke; Chiara Sabatti; Nelson B Freimer; Jeffrey R Gulcher; Unnur Thorsteinsdottir; Augustine Kong; Ole A Andreassen; Roel A Ophoff; Alexander Georgi; Marcella Rietschel; Thomas Werge; Hannes Petursson; David B Goldstein; Markus M Nöthen; Leena Peltonen; David A Collier; David St Clair; Kari Stefansson
Journal:  Nature       Date:  2008-09-11       Impact factor: 49.962

10.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117
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  24 in total

Review 1.  An assessment of computational methods for estimating purity and clonality using genomic data derived from heterogeneous tumor tissue samples.

Authors:  Vinod Kumar Yadav; Subhajyoti De
Journal:  Brief Bioinform       Date:  2014-02-20       Impact factor: 11.622

Review 2.  Conventional and genetic talent identification in sports: will recent developments trace talent?

Authors:  Sarah Breitbach; Suzan Tug; Perikles Simon
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

Review 3.  Transcriptomic biomarkers of cardiovascular disease.

Authors:  Dawn M Pedrotty; Michael P Morley; Thomas P Cappola
Journal:  Prog Cardiovasc Dis       Date:  2012 Jul-Aug       Impact factor: 8.194

Review 4.  Genetics of coronary artery disease.

Authors:  Wolfgang Lieb; Ramachandran S Vasan
Journal:  Circulation       Date:  2013-09-03       Impact factor: 29.690

Review 5.  A 'culture' shift: Application of molecular techniques for diagnosing polymicrobial infections.

Authors:  Yi Zhang; Anne Hu; Nadya Andini; Samuel Yang
Journal:  Biotechnol Adv       Date:  2019-02-20       Impact factor: 14.227

Review 6.  Mendelian forms of structural cardiovascular disease.

Authors:  Calum A MacRae
Journal:  Curr Cardiol Rep       Date:  2013-10       Impact factor: 2.931

Review 7.  A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management.

Authors:  Kyla E Dunn; Colleen Caleshu; Allison L Cirino; Carolyn Y Ho; Euan A Ashley
Journal:  Circ Cardiovasc Genet       Date:  2013-02

Review 8.  Genomics in cardiovascular disease.

Authors:  Robert Roberts; A J Marian; Sonny Dandona; Alexandre F R Stewart
Journal:  J Am Coll Cardiol       Date:  2013-03-21       Impact factor: 24.094

9.  Systems biology and cardiac arrhythmias.

Authors:  Andrew A Grace; Dan M Roden
Journal:  Lancet       Date:  2012-10-27       Impact factor: 79.321

10.  Cost analysis of whole genome sequencing in German clinical practice.

Authors:  Marika Plöthner; Martin Frank; J-Matthias Graf von der Schulenburg
Journal:  Eur J Health Econ       Date:  2016-07-05
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