-
1
-
-
80051710052
-
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA)
-
Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. (2012) HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13: 1077-1109.
-
(2012)
Europace
, vol.13
, pp. 1077-1109
-
-
Ackerman, M.J.1
Priori, S.G.2
Willems, S.3
Berul, C.4
Brugada, R.5
-
2
-
-
41149114636
-
Clinical indications for genetic testing in familial sudden cardiac death syndromes
-
HRUK position statement
-
HRUK position statement, (2008) Clinical indications for genetic testing in familial sudden cardiac death syndromes. Heart 94: 502-507.
-
(2008)
Heart
, vol.94
, pp. 502-507
-
-
-
4
-
-
80053292217
-
Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization
-
Descamps OS, Tenoutasse S, Stephenne X, Gies I, Beauloye V, et al. (2011) Management of familial hypercholesterolemia in children and young adults: consensus paper developed by a panel of lipidologists, cardiologists, paediatricians, nutritionists, gastroenterologists, general practitioners and a patient organization. Atherosclerosis 218: 272-280.
-
(2011)
Atherosclerosis
, vol.218
, pp. 272-280
-
-
Descamps, O.S.1
Tenoutasse, S.2
Stephenne, X.3
Gies, I.4
Beauloye, V.5
-
5
-
-
84856217893
-
Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist
-
Ware JS, Roberts AM, Cook SA, (2012) Next generation sequencing for clinical diagnostics and personalised medicine: implications for the next generation cardiologist. Heart 98: 276-81.
-
(2012)
Heart
, vol.98
, pp. 276-281
-
-
Ware, J.S.1
Roberts, A.M.2
Cook, S.A.3
-
7
-
-
77951481903
-
Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK
-
Burton H, Alberg C, Stewart A, (2010) Mainstreaming genetics: a comparative review of clinical services for inherited cardiovascular conditions in the UK. Public Health Genomics 13: 235-245.
-
(2010)
Public Health Genomics
, vol.13
, pp. 235-245
-
-
Burton, H.1
Alberg, C.2
Stewart, A.3
-
8
-
-
84865591846
-
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
-
Quail MA, Smith M, Coupland P, Otto TD, Harris SR, et al. (2012) A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers. BMC Genomics 13: 341.
-
(2012)
BMC Genomics
, vol.13
, pp. 341
-
-
Quail, M.A.1
Smith, M.2
Coupland, P.3
Otto, T.D.4
Harris, S.R.5
-
9
-
-
84862318037
-
A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance
-
Eyre DW, Golubchik T, Gordon NC, Bowden R, Piazza P, et al. (2012) A pilot study of rapid benchtop sequencing of Staphylococcus aureus and Clostridium difficile for outbreak detection and surveillance. BMJ Open 2.
-
(2012)
BMJ Open
, pp. 2
-
-
Eyre, D.W.1
Golubchik, T.2
Gordon, N.C.3
Bowden, R.4
Piazza, P.5
-
10
-
-
84860756398
-
Performance comparison of benchtop high-throughput sequencing platforms
-
Loman NJ, Misra RV, Dallman TJ, Constantinidou C, Gharbia SE, et al. (2012) Performance comparison of benchtop high-throughput sequencing platforms. Nat Biotechnol 30: 434-439.
-
(2012)
Nat Biotechnol
, vol.30
, pp. 434-439
-
-
Loman, N.J.1
Misra, R.V.2
Dallman, T.J.3
Constantinidou, C.4
Gharbia, S.E.5
-
11
-
-
84866564536
-
Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer
-
Yeo ZX, Chan M, Yap YS, Ang P, Rozen S, et al. (2012) Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer. PLoS One 7: e45798.
-
(2012)
PLoS One
, vol.7
-
-
Yeo, Z.X.1
Chan, M.2
Yap, Y.S.3
Ang, P.4
Rozen, S.5
-
12
-
-
84869218774
-
Next-Generation Ion Torrent Sequencing of Drug Resistance Mutations in Mycobacterium tuberculosis Strains
-
Daum LT, Rodriguez JD, Worthy SA, Ismail NA, Omar SV, et al. (2012) Next-Generation Ion Torrent Sequencing of Drug Resistance Mutations in Mycobacterium tuberculosis Strains. J Clin Microbiol 50: 3831-3837.
-
(2012)
J Clin Microbiol
, vol.50
, pp. 3831-3837
-
-
Daum, L.T.1
Rodriguez, J.D.2
Worthy, S.A.3
Ismail, N.A.4
Omar, S.V.5
-
13
-
-
84864754044
-
Bacterial community shift in treated periodontitis patients revealed by ion torrent 16S rRNA gene amplicon sequencing
-
Junemann S, Prior K, Szczepanowski R, Harks I, Ehmke B, et al. (2012) Bacterial community shift in treated periodontitis patients revealed by ion torrent 16S rRNA gene amplicon sequencing. PLoS One 7: e41606.
-
(2012)
PLoS One
, vol.7
-
-
Junemann, S.1
Prior, K.2
Szczepanowski, R.3
Harks, I.4
Ehmke, B.5
-
14
-
-
84867613923
-
Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform
-
Whiteley AS, Jenkins S, Waite I, Kresoje N, Payne H, et al. (2012) Microbial 16S rRNA Ion Tag and community metagenome sequencing using the Ion Torrent (PGM) Platform. J Microbiol Methods 91: 80-88.
-
(2012)
J Microbiol Methods
, vol.91
, pp. 80-88
-
-
Whiteley, A.S.1
Jenkins, S.2
Waite, I.3
Kresoje, N.4
Payne, H.5
-
15
-
-
84862093048
-
Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information
-
Vogel U, Szczepanowski R, Claus H, Junemann S, Prior K, et al. (2012) Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information. J Clin Microbiol 50: 1889-1894.
-
(2012)
J Clin Microbiol
, vol.50
, pp. 1889-1894
-
-
Vogel, U.1
Szczepanowski, R.2
Claus, H.3
Junemann, S.4
Prior, K.5
-
16
-
-
84863981120
-
Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms
-
Caporaso JG, Lauber CL, Walters WA, Berg-Lyons D, Huntley J, et al. (2012) Ultra-high-throughput microbial community analysis on the Illumina HiSeq and MiSeq platforms. ISME J 6: 1621-1624.
-
(2012)
ISME J
, vol.6
, pp. 1621-1624
-
-
Caporaso, J.G.1
Lauber, C.L.2
Walters, W.A.3
Berg-Lyons, D.4
Huntley, J.5
-
17
-
-
84867400465
-
Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform
-
Chan M, Ji SM, Yeo ZX, Gan L, Yap E, et al. (2012) Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform. J Mol Diagn 14: 602-612.
-
(2012)
J Mol Diagn
, vol.14
, pp. 602-612
-
-
Chan, M.1
Ji, S.M.2
Yeo, Z.X.3
Gan, L.4
Yap, E.5
-
18
-
-
84859452678
-
Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing
-
Elliott AM, Radecki J, Moghis B, Li X, Kammesheidt A, (2012) Rapid detection of the ACMG/ACOG-recommended 23 CFTR disease-causing mutations using ion torrent semiconductor sequencing. J Biomol Tech 23: 24-30.
-
(2012)
J Biomol Tech
, vol.23
, pp. 24-30
-
-
Elliott, A.M.1
Radecki, J.2
Moghis, B.3
Li, X.4
Kammesheidt, A.5
-
19
-
-
84861865679
-
High-throughput, high-fidelity HLA genotyping with deep sequencing
-
Wang C, Krishnakumar S, Wilhelmy J, Babrzadeh F, Stepanyan L, et al. (2012) High-throughput, high-fidelity HLA genotyping with deep sequencing. Proc Natl Acad Sci U S A 109: 8676-8681.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 8676-8681
-
-
Wang, C.1
Krishnakumar, S.2
Wilhelmy, J.3
Babrzadeh, F.4
Stepanyan, L.5
-
20
-
-
83655211930
-
Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing
-
Harismendy O, Schwab RB, Bao L, Olson J, Rozenzhak S, et al. (2011) Detection of low prevalence somatic mutations in solid tumors with ultra-deep targeted sequencing. Genome Biol 12: R124.
-
(2011)
Genome Biol
, vol.12
-
-
Harismendy, O.1
Schwab, R.B.2
Bao, L.3
Olson, J.4
Rozenzhak, S.5
-
21
-
-
79958132127
-
Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease
-
Novotny T, Kadlecova J, Raudenska M, Bittnerova A, Andrsova I, et al. (2011) Mutation analysis ion channel genes ventricular fibrillation survivors with coronary artery disease. Pacing Clin Electrophysiol 34: 742-749.
-
(2011)
Pacing Clin Electrophysiol
, vol.34
, pp. 742-749
-
-
Novotny, T.1
Kadlecova, J.2
Raudenska, M.3
Bittnerova, A.4
Andrsova, I.5
-
22
-
-
0033990048
-
Primer3 on the WWW for general users and for biologist programmers
-
Rozen S, Skaletsky H, (2000) Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132: 365-386.
-
(2000)
Methods Mol Biol
, vol.132
, pp. 365-386
-
-
Rozen, S.1
Skaletsky, H.2
-
23
-
-
84872596130
-
Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches
-
Ware JS, John S, Roberts AM, Buchan R, Gong S, et al. (2013) Next Generation Diagnostics in Inherited Arrhythmia Syndromes: A Comparison of Two Approaches. J Cardiovasc Transl Res.
-
(2013)
J Cardiovasc Transl Res
-
-
Ware, J.S.1
John, S.2
Roberts, A.M.3
Buchan, R.4
Gong, S.5
-
24
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R, (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25: 1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
25
-
-
77951770756
-
BEDTools: a flexible suite of utilities for comparing genomic features
-
Quinlan AR, Hall IM, (2010) BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics 26: 841-842.
-
(2010)
Bioinformatics
, vol.26
, pp. 841-842
-
-
Quinlan, A.R.1
Hall, I.M.2
-
26
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
-
27
-
-
77954091424
-
Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries
-
Mokry M, Feitsma H, Nijman IJ, de Bruijn E, van der Zaag PJ, et al. (2010) Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res 38: e116.
-
(2010)
Nucleic Acids Res
, vol.38
-
-
Mokry, M.1
Feitsma, H.2
Nijman, I.J.3
de Bruijn, E.4
van der Zaag, P.J.5
-
28
-
-
79957486466
-
Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies
-
Meder B, Haas J, Keller A, Heid C, Just S, et al. (2011) Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 4: 110-122.
-
(2011)
Circ Cardiovasc Genet
, vol.4
, pp. 110-122
-
-
Meder, B.1
Haas, J.2
Keller, A.3
Heid, C.4
Just, S.5
-
29
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
-
30
-
-
78651271733
-
Integrative genomics viewer
-
Robinson JT, Thorvaldsdottir H, Winckler W, Guttman M, Lander ES, et al. (2011) Integrative genomics viewer. Nat Biotechnol 29: 24-26.
-
(2011)
Nat Biotechnol
, vol.29
, pp. 24-26
-
-
Robinson, J.T.1
Thorvaldsdottir, H.2
Winckler, W.3
Guttman, M.4
Lander, E.S.5
-
33
-
-
84863877251
-
Paralogous annotation of disease-causing variants in long QT syndrome genes
-
Ware JS, Walsh R, Cunningham F, Birney E, Cook SA, (2012) Paralogous annotation of disease-causing variants in long QT syndrome genes. Hum Mutat 33: 1188-1191.
-
(2012)
Hum Mutat
, vol.33
, pp. 1188-1191
-
-
Ware, J.S.1
Walsh, R.2
Cunningham, F.3
Birney, E.4
Cook, S.A.5
-
34
-
-
79955708249
-
Comparison of three targeted enrichment strategies on the SOLiD sequencing platform
-
Hedges DJ, Guettouche T, Yang S, Bademci G, Diaz A, et al. (2011) Comparison of three targeted enrichment strategies on the SOLiD sequencing platform. PLoS One 6: e18595.
-
(2011)
PLoS One
, vol.6
-
-
Hedges, D.J.1
Guettouche, T.2
Yang, S.3
Bademci, G.4
Diaz, A.5
-
35
-
-
80052830541
-
Comparison of solution-based exome capture methods for next generation sequencing
-
Sulonen AM, Ellonen P, Almusa H, Lepisto M, Eldfors S, et al. (2011) Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol 12: R94.
-
(2011)
Genome Biol
, vol.12
-
-
Sulonen, A.M.1
Ellonen, P.2
Almusa, H.3
Lepisto, M.4
Eldfors, S.5
-
36
-
-
75349097525
-
Enrichment of sequencing targets from the human genome by solution hybridization
-
Tewhey R, Nakano M, Wang X, Pabon-Pena C, Novak B, et al. (2009) Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol 10: R116.
-
(2009)
Genome Biol
, vol.10
-
-
Tewhey, R.1
Nakano, M.2
Wang, X.3
Pabon-Pena, C.4
Novak, B.5
-
37
-
-
0024282746
-
Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase
-
Tindall KR, Kunkel TA, (1988) Fidelity of DNA synthesis by the Thermus aquaticus DNA polymerase. Biochemistry 27: 6008-6013.
-
(1988)
Biochemistry
, vol.27
, pp. 6008-6013
-
-
Tindall, K.R.1
Kunkel, T.A.2
-
38
-
-
26944485507
-
Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing
-
Tester DJ, Kopplin LJ, Will ML, Ackerman MJ, (2005) Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm 2: 1099-1105.
-
(2005)
Heart Rhythm
, vol.2
, pp. 1099-1105
-
-
Tester, D.J.1
Kopplin, L.J.2
Will, M.L.3
Ackerman, M.J.4
|