Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
about
So rare we need to hunt for them: reframing the ethical debate on incidental findings.Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart DiseaseThe Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast CancerMolecular diagnostic experience of whole-exome sequencing in adult patientsRecommendations for the integration of genomics into clinical practiceChoices for return of primary and secondary genomic research results of 790 members of families with Mendelian disease.Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing.Comorbidity in the Tunisian population.The Rise and Rise of Exome Sequencing.Pitfalls of exome sequencing: a case study of the attribution of HABP2 rs7080536 in familial non-medullary thyroid cancer.Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Management of Incidental Findings in Clinical Genomic Sequencing.Secondary findings in 421 whole exome-sequenced Chinese children
P2860
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P2860
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
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2015年學術文章
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name
Assessment of incidental findi ...... Center for Mendelian Genomics
@ast
Assessment of incidental findi ...... Center for Mendelian Genomics
@en
type
label
Assessment of incidental findi ...... Center for Mendelian Genomics
@ast
Assessment of incidental findi ...... Center for Mendelian Genomics
@en
prefLabel
Assessment of incidental findi ...... Center for Mendelian Genomics
@ast
Assessment of incidental findi ...... Center for Mendelian Genomics
@en
P2093
P2860
P356
P1433
P1476
Assessment of incidental findi ...... Center for Mendelian Genomics
@en
P2093
Ada Hamosh
David Valle
Dimitri Avramopoulos
Elizabeth Pugh
Francois Schiettecatte
Kurt Hetrick
Nara Sobreira
P2860
P2888
P304
P356
10.1038/GIM.2014.196
P407
P577
2015-01-08T00:00:00Z
P6179
1004843678