Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. - Wikidata - awgldk - TriplyDB

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

http://www.wikidata.org/entity/Q38115273

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Quality standards for DNA sequence variation databases to improve clinical management under development in Australia.Novel bioinformatic developments for exome sequencing Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects Returning findings within longitudinal cohort studies: the 1958 birth cohort as an exemplar.Diagnostics of primary immunodeficiency diseases: a sequencing capture approach Next-generation sequencing in clinical oncology: next steps towards clinical validation Application of Next Generation Sequencing for personalized medicine for sudden cardiac death.A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape panelcn.MOPS: Copy-number detection in targeted NGS panel data for clinical diagnostics.Targeted resequencing and variant validation using pxlence PCR assays RAS testing in metastatic colorectal cancer: advances in Europe Responsible implementation of expanded carrier screening.Techniques and Approaches to Genetic Analyses in Nephrological Disorders.BRCA1 and BRCA2 sequence variations detected with next-generation sequencing in patients with premature ovarian insufficiency.Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies.Primary immunodeficiencies: a decade of shifting paradigms, the current status and the emergence of cutting-edge therapies and diagnostics.Assessment of concordance between fresh-frozen and formalin-fixed paraffin embedded tumor DNA methylation using a targeted sequencing approach.Advances in clinical next-generation sequencing: target enrichment and sequencing technologies.Advances in renal genetic diagnosis.Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory.Critical points for an accurate human genome analysis.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Next-generation diagnostics: gene panel, exome, or whole genome?The future of Clinical Utility Gene Cards in the context of next-generation sequencing diagnostic panels.Targeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.High Throughput Sequencing for Detection of Foodborne Pathogens.Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.A post hoc study on gene panel analysis for the diagnosis of dystonia.Points to consider for laboratories reporting results from diagnostic genomic sequencing.Next-Generation Sequencing in Diagnostic Pathology.Genetic diagnostics of inherited aortic diseases : Medical strategy analysis.Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases Identification of Factors Affecting the Success of Next-Generation Sequencing Testing in Solid Tumors

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Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

http://www.wikidata.org/entity/Q38115273

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Best practice guidelines for t ...... enome diagnostic laboratories.

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Arthur van den Wijngaard

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Bert Van der Zwaag

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Claudia A L Ruivenkamp

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Hennie T Brüggenwirth

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Jan D H Jongbloed

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Maartje J Vogel

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Marcel R Nelen

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Marjan M Weiss

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Marjon A van Slegtenhorst

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Nienke van der Stoep

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Fast and accurate short read alignment with Burrows-Wheeler transform

Sequencing technologies - the next generation

Fast gapped-read alignment with Bowtie 2

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

The revised Ghent nosology for the Marfan syndrome

SHRiMP2: sensitive yet practical SHort Read Mapping

The variant call format and VCFtools

Dindel: accurate indel calls from short-read data.

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1313-1321

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scholarly article

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10.1002/HUMU.22368

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10

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34

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Quinten Waisfisz

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2013-08-19T00:00:00Z

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239942159

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23776008

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