Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes - Wikidata - thesis-toulmin - TriplyDB

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

http://www.wikidata.org/entity/Q36620496

about

Titin-truncating variants affect heart function in disease cohorts and the general population.Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data Moderate Physical Activity in Healthy Adults Is Associated With Cardiac Remodeling Genetics and genomics of dilated cardiomyopathy and systolic heart failure.Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.'Natural' and 'Unnatural' medical deaths and coronial law: A UK and international review of the medical literature on natural and unnatural death and how it applies to medical death certification and reporting deaths to coroners: Natural/Unnatural d Challenges in Molecular Diagnostics of Channelopathies in the Next-Generation Sequencing Era: Less Is More?Using high-resolution variant frequencies to empower clinical genome interpretation.Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Phenotype and Clinical Outcomes of Titin Cardiomyopathy.Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?Ajmaline blocks INa and IKr without eliciting differences between Brugada syndrome patient and control human pluripotent stem cell-derived cardiac clusters.Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.Genetic Etiology for Alcohol-Induced Cardiac Toxicity.Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

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P2860

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

http://www.wikidata.org/entity/Q36620496

description

2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

@en

prefLabel

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

@ast

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Journal of Cardiovascular Translational Research

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Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

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Bee Yong Soh

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Chee Jian Pua

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Jaclyn Lim

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Jaydutt Bhalshankar

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Jing Quan Lim

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Kingsley Chow

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Kui Miao

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Patrick Tan

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Pei Min Lio

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Shi Qi Lim

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P2860

Achieving high-sensitivity for clinical applications using augmented exome sequencing

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

Fast and accurate short read alignment with Burrows-Wheeler transform

Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

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

The Sequence Alignment/Map format and SAMtools

BEDTools: a flexible suite of utilities for comparing genomic features.

The variant call format and VCFtools

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

Quality control and preprocessing of metagenomic datasets

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3-11

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1

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Sebastian Schäfer

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2016-02-17T00:00:00Z

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