Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches. (Q36537110)

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12 February 2020

title

Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches (English)

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12 February 2020

5

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James Ware

1

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12 February 2020

Rachel Buchan

4

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12 February 2020

Anneke Lucassen

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12 February 2020

Elijah Behr

9

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author name string

Shibu John

2

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12 February 2020

Angharad M Roberts

3

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12 February 2020

Nicholas S Peters

6

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12 February 2020

David O Robinson

7

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12 February 2020

Stuart A Cook

10

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12 February 2020

language of work or name

English

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publication date

7 September 2012

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Journal of Cardiovascular Translational Research

12 February 2020

published in

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volume

6

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issue

1

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page(s)

94-103

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Performance comparison of exome DNA sequencing technologies

12 February 2020

cites work

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Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

30 September 2017

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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).

30 September 2017

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

30 September 2017

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30 September 2017

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A map of human genome variation from population-scale sequencing

30 September 2017

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The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

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A database and API for variation, dense genotyping and resequencing data

30 September 2017

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Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: implications for patient management

30 September 2017

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Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries

30 September 2017

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BEDTools: a flexible suite of utilities for comparing genomic features

30 September 2017

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Mutation-specific risk in two genetic forms of type 3 long QT syndrome

30 September 2017

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Fast and accurate long-read alignment with Burrows-Wheeler transform

30 September 2017

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Sequencing technologies - the next generation

30 September 2017

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The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading [...]

30 September 2017

1 reference

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The genetic basis of long QT and short QT syndromes: a mutation update

30 September 2017

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Enrichment of sequencing targets from the human genome by solution hybridization

30 September 2017

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The Sequence Alignment/Map format and SAMtools

30 September 2017

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Fast and accurate short read alignment with Burrows-Wheeler transform

30 September 2017

1 reference

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

30 September 2017

1 reference

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Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

30 September 2017

1 reference

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Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome.

30 September 2017

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DNA sequencing with chain-terminating inhibitors

30 September 2017

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All LQT3 patients need an ICD: true or false?

30 September 2017

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Human Gene Mutation Database (HGMD): 2003 update

21 January 2018

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Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

21 January 2018

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High Efficacy of β-Blockers in Long-QT Syndrome Type 1

21 January 2018

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Identifiers

DOI

1 reference

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12 February 2020

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12 February 2020

PubMed publication ID

22956155

1 reference

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