The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. - Wikidata - wikimedia - TriplyDB

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

http://www.wikidata.org/entity/Q35848496

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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.Genomic newborn screening: public health policy considerations and recommendations.Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.Recommendations for the integration of genomics into clinical practice Return of genetic testing results in the era of whole-genome sequencing.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.Expect the unexpected: screening for secondary findings in clinical genomics research.Genetics of movement disorders in the next-generation sequencing era.A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.Exploiting the potential of next-generation sequencing in genomic medicine.Next-Generation Sequencing and the Return of Results.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.The Rise and Rise of Exome Sequencing.Primary ciliary dyskinesia: mechanisms and management.Parents' Perspectives on Supporting Their Decision Making in Genome-Wide Sequencing.Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.Evaluation of exome filtering techniques for the analysis of clinically relevant genes.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Points to consider for laboratories reporting results from diagnostic genomic sequencing.Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?Soins primaires aux adultes ayant des déficiences intellectuelles et développementales: Lignes directrices consensuelles canadiennes de 2018."Not pathogenic until proven otherwise": perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project.Primary care of adults with intellectual and developmental disabilities: 2018 Canadian consensus guidelines.Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process

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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

http://www.wikidata.org/entity/Q35848496

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JMEDGENET-2015-103144

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Journal of Medical Genetics

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Anne-Marie Laberge

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Bekim Sadikovic

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Bridget A Fernandez

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Canadian College of Medical Geneticists

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Christine M Armour

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Clara van Karnebeek

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David L Skidmore

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Francois Bernier

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Jacek Majewski

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Jacques L Michaud

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P2860

GENE SEQUENCING: The Race for the $1000 Genome

Clinical application of exome sequencing in undiagnosed genetic conditions

Recommendations for returning genomic incidental findings? We need to talk!

Sequencing technologies - the next generation

Next-generation sequencing: from basic research to diagnostics

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

Guidelines for investigating causality of sequence variants in human disease

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

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431-437

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10.1136/JMEDGENET-2015-103144

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7

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Bartha Knoppers

Clara van Karnebeek

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2015-05-07T00:00:00Z

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276064534

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25951830

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