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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' viewsDawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management.Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.Translating RNA sequencing into clinical diagnostics: opportunities and challenges.Assessment of the latest NGS enrichment capture methods in clinical context.A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscapeClinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches.Swedish healthcare providers' perceptions of preconception expanded carrier screening (ECS)-a qualitative studyA high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersResearch participant interest in primary, secondary, and incidental genomic findings.Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.Clinical Interpretation of Genomic Variations.Reference standards for next-generation sequencing.Advances in renal genetic diagnosis.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Validation and optimization of the Ion Torrent S5 XL sequencer and Oncomine workflow for BRCA1 and BRCA2 genetic testing.The ins and outs of molecular pathology reporting.Next-Generation Sequencing and the Return of Results.Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.Unsolved challenges in pediatric whole-exome sequencing: A literature analysis.Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.Critical points for an accurate human genome analysis.Diagnosis of inherited bleeding disorders in the genomic era.Actionable Genes, Core Databases, and Locus-Specific Databases.Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.A novel molecular diagnostics platform for somatic and germline precision oncology.The Role of Next-Generation Sequencing in Enabling Personalized Oncology Therapy.Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.New EuroGentest/ESHG guidelines and a new clinical utility gene card format for NGS-based testing.Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies.The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.VarCards: an integrated genetic and clinical database for coding variants in the human genome.Bioinformatics for precision oncology.Genomic medicine for kidney disease.Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.
P2860
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P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Guidelines for diagnostic next-generation sequencing
@ast
Guidelines for diagnostic next-generation sequencing
@en
type
label
Guidelines for diagnostic next-generation sequencing
@ast
Guidelines for diagnostic next-generation sequencing
@en
prefLabel
Guidelines for diagnostic next-generation sequencing
@ast
Guidelines for diagnostic next-generation sequencing
@en
P2093
P356
P1476
Guidelines for diagnostic next-generation sequencing
@en
P2093
Anniek Corveleyn
Egbert Bakker
Erik Sistermans
Erika Souche
EuroGentest
European Society of Human Genetics
Hans Scheffer
Helger Yntema
Ilse Feenstra
Mariëlle Alders
P2888
P356
10.1038/EJHG.2015.226
P577
2015-10-28T00:00:00Z
P5875
P6179
1016072815