about
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsSemantic prioritization of novel causative genomic variantsGenome-wide identification of CBX2 targets: insights in the human sex development network.Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases.Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease.A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations.Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.Clinical exome sequencing in neurologic disease.Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerThe rare and undiagnosed diseases diagnostic service - application of massively parallel sequencing in a state-wide clinical service.Clinical exome sequencing: results from 2819 samples reflecting 1000 families.Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.Recommendations for the integration of genomics into clinical practiceNavigating the current landscape of clinical genetic testing for inherited retinal dystrophies.Can genomic medicine improve financial sustainability of health systems?Whole-exome sequencing as a diagnostic tool: current challenges and future opportunities.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Can exome scans be expected to be part of real-time decision-making in patients with haematological cancers?Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.IMSindel: An accurate intermediate-size indel detection tool incorporating de novo assembly and gapped global-local alignment with split read analysis.
P2860
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P2860
description
2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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2014年学术文章
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name
Clinical whole-exome sequencing: are we there yet?
@en
Clinical whole-exome sequencing: are we there yet?
@nl
type
label
Clinical whole-exome sequencing: are we there yet?
@en
Clinical whole-exome sequencing: are we there yet?
@nl
prefLabel
Clinical whole-exome sequencing: are we there yet?
@en
Clinical whole-exome sequencing: are we there yet?
@nl
P2093
P356
P1433
P1476
Clinical whole-exome sequencing: are we there yet?
@en
P2093
Andrea Kwan
Gregory M Enns
Jonathan Adam Bernstein
Julia Platt
Leah Slattery
Louanne Hudgins
Margaret Homeyer
Marie-Louise Brennan
Michael Niaki
Rachel Cox
P2860
P2888
P304
P356
10.1038/GIM.2014.10
P407
P577
2014-02-13T00:00:00Z