Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
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Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and PerspectivesIntegrating next-generation sequencing into clinical oncology: strategies, promises and pitfallsUnsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsScreening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy.Diagnostic approaches for inherited hemolytic anemia in the genetic eraUse of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal DisordersExome sequencing for molecular characterization of non-HFE hereditary hemochromatosis.Illustrative case studies in the return of exome and genome sequencing results.Genomic newborn screening: public health policy considerations and recommendations.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthOn the complexity of clinical and molecular bases of neurodegeneration with brain iron accumulation.Clinical exome sequencing in neurogenetic and neuropsychiatric disordersComparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.Next-generation sequencing still needs our generation's clinicians.The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical CentersClinical exome sequencing in neurologic disease.Clinical and laboratory variability in a cohort of patients diagnosed with type 1 VWD in the United States.46,XY disorder of sex development due to 17-beta hydroxysteroid dehydrogenase type 3 deficiency: a plea for timely genetic testing.Techniques and Approaches to Genetic Analyses in Nephrological Disorders.Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsReassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Hereditary cancer risk assessment: challenges for the next-gen sequencing era.Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.Axons to Exons: the Molecular Diagnosis of Rare Neurological Diseases by Next-Generation Sequencing.The cost and cost trajectory of whole-genome analysis guiding treatment of patients with advanced cancers.Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Clinical Versus Research Sequencing.Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.High-Throughput Assays to Assess the Functional Impact of Genetic Variants: A Road Towards Genomic-Driven Medicine.Novel biotechnology approaches in colorectal cancer diagnosis and therapy.The Complementarity Between Protein-Specific and General Pathogenicity Predictors for Amino Acid Substitutions.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.[Whole-genome sequencing in German clinical practice : Economic impacts of its use in selected areas of application].The Rise and Rise of Exome Sequencing.
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Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Solving the molecular diagnost ...... l, or exome/genome sequencing.
@en
type
label
Solving the molecular diagnost ...... l, or exome/genome sequencing.
@en
prefLabel
Solving the molecular diagnost ...... l, or exome/genome sequencing.
@en
P2093
P2860
P356
P1433
P1476
Solving the molecular diagnost ...... l, or exome/genome sequencing.
@en
P2093
Arunkanth Ankala
Madhuri R Hegde
William R Wilcox
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P2888
P304
P356
10.1038/GIM.2014.122
P407
P577
2014-09-18T00:00:00Z
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P6179
1025042944