Molecular genetic testing and the future of clinical genomics.
about
Clinical Genetic Testing in GastroenterologyEnvironmental Chemical Assessment in Clinical Practice: Unveiling the Elephant in the RoomChallenges of deciphering gastric cancer heterogeneityGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresGenomic intensive care: should we perform genome testing in critically ill newborns?Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effectsClinical integration of next generation sequencing: coverage and reimbursement challenges.Strategies for modern biomarker and drug development in oncology.Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.Navigating the multilayered organization of eukaryotic signaling: a new trend in data integration.Quality control, imputation and analysis of genome-wide genotyping data from the Illumina HumanCoreExome microarray.Using reference-free compressed data structures to analyze sequencing reads from thousands of human genomesNew population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.An integrated paper-based sample-to-answer biosensor for nucleic acid testing at the point of care.Fluorescence in situ hybridization in surgical pathology: principles and applications.New challenges in high-energy particle radiobiology.Genetic counselors and the future of clinical genomicsPartial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.The golden era of ocular disease gene discovery: race to the finish.Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.In silico single strand melting curve: a new approach to identify nucleic acid polymorphisms in TotiviridaeInterpreting human genetic variation with in vivo zebrafish assays.Next-generation sequencing is highly sensitive for the detection of beta-catenin mutations in desmoid-type fibromatoses.Management of Incidental Findings in the Era of Next-generation SequencingClinLabGeneticist: a tool for clinical management of genetic variants from whole exome sequencing in clinical genetic laboratories.Clinical utility of RASSF1A methylation in human malignancies.Global Carrier Rates of Rare Inherited Disorders Using Population Exome SequencesFunctional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-MakingPlasma metabolomic profiles enhance precision medicine for volunteers of normal health.Representing genetic variation with synthetic DNA standards.FDA's Proposed Guidance for Laboratory Developed Tests: How Should Regulators Balance the Risks and Promise of Innovation in Clinical Genetics?Genomic research in Zambia: confronting the ethics, policy and regulatory frontiers in the 21st Century.PART of the WHOLE: A Case Study in Wellness-Oriented Personalized Medicine.A multiplex primer design algorithm for target amplification of continuous genomic regions.Methanol-based fixation is superior to buffered formalin for next-generation sequencing of DNA from clinical cancer samples.Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl SyndromeEstablishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Development of the clinical next-generation sequencing industry in a shifting policy climate.The GG genotype of telomerase reverse transcriptase at genetic locus rs2736100 is associated with human atherosclerosis risk in the Han Chinese population.Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
P2860
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P2860
Molecular genetic testing and the future of clinical genomics.
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Molecular genetic testing and the future of clinical genomics.
@ast
Molecular genetic testing and the future of clinical genomics.
@en
Molecular genetic testing and the future of clinical genomics.
@nl
type
label
Molecular genetic testing and the future of clinical genomics.
@ast
Molecular genetic testing and the future of clinical genomics.
@en
Molecular genetic testing and the future of clinical genomics.
@nl
prefLabel
Molecular genetic testing and the future of clinical genomics.
@ast
Molecular genetic testing and the future of clinical genomics.
@en
Molecular genetic testing and the future of clinical genomics.
@nl
P2860
P356
P1476
Molecular genetic testing and the future of clinical genomics.
@en
P2860
P2888
P304
P356
10.1038/NRG3493
P577
2013-06-01T00:00:00Z
P6179
1032133550