Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics. - Wikidata - wikimedia - TriplyDB

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

http://www.wikidata.org/entity/Q45736566

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Genetics and disease of ventricular muscle.PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.CLINICAL PROGRESS IN INHERITED RETINAL DEGENERATIONS: GENE THERAPY CLINICAL TRIALS AND ADVANCES IN GENETIC SEQUENCING.Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.Potential genetic predisposition for anthracycline-associated cardiomyopathy in families with dilated cardiomyopathy.Automation of molecular-based analyses: a primer on massively parallel sequencing.Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis Effective variant detection by targeted deep sequencing of DNA pools: an example from Parkinson's disease.Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.Genetic advances in sarcomeric cardiomyopathies: state of the art.KRAS mutant allele-specific imbalance (MASI) assessment in routine samples of patients with metastatic colorectal cancer.Phasing amplicon sequencing on Illumina Miseq for robust environmental microbial community analysis.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Utility of different massive parallel sequencing platforms for mutation profiling in clinical samples and identification of pitfalls using FFPE tissue Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders.De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.Cytology smears as excellent starting material for next-generation sequencing-based molecular testing of patients with adenocarcinoma of the lung.Statistical method to compare massive parallel sequencing pipelines.Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Clinical exome sequencing in neurologic disease.Responsible implementation of expanded carrier screening.Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.Systematic Evaluation of Sanger Validation of Next-Generation Sequencing Variants Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.China launched a pilot project to improve its rare disease healthcare levels.LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.Next-generation sequencing for mitochondrial disorders

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Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.

http://www.wikidata.org/entity/Q45736566

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Targeted next-generation seque ...... ncing in clinical diagnostics.

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Birgit Sikkema-Raddatz

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Eddy N de Boer

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J Peter van Tintelen

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Jan D H Jongbloed

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Karin Y van Spaendonck-Zwarts

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Lennart F Johansson

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Ludolf G Boven

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Maarten P van den Berg

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Richard J Sinke

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Rolf H Sijmons

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P2860

Exome sequencing identifies the cause of a mendelian disorder

Targeted capture and massively parallel sequencing of 12 human exomes

Disease gene identification strategies for exome sequencing

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy.

Next generation sequencing for clinical diagnostics-principles and application to targeted resequencing for hypertrophic cardiomyopathy: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology.

Comparison of solution-based exome capture methods for next generation sequencing

Truncations of titin causing dilated cardiomyopathy.

Assuring the quality of next-generation sequencing in clinical laboratory practice.

Next-generation sequencing to identify genetic causes of cardiomyopathies.

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1035-1042

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10.1002/HUMU.22332

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7

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34

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