Clinical exome performance for reporting secondary genetic findings
about
Achieving high-sensitivity for clinical applications using augmented exome sequencingIncidental Findings with Genomic Testing: Implications for Genetic Counseling PracticeExplorations to improve the completeness of exome sequencingGenetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathyExome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.Newborn screening and the era of medical genomics.Phenotypic H-Antigen Typing by Mass Spectrometry Combined with Genetic Typing of H Antigens, O Antigens, and Toxins by Whole-Genome Sequencing Enhances Identification of Escherichia coli IsolatesThe SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.Actionable Genes, Core Databases, and Locus-Specific Databases.Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates.Genomic medicine for kidney disease.Exome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
P2860
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P2860
Clinical exome performance for reporting secondary genetic findings
description
2014 nî lūn-bûn
@nan
2014年の論文
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2014年学术文章
@wuu
2014年学术文章
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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
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2014年學術文章
@zh-hant
name
Clinical exome performance for reporting secondary genetic findings
@en
Clinical exome performance for reporting secondary genetic findings.
@nl
type
label
Clinical exome performance for reporting secondary genetic findings
@en
Clinical exome performance for reporting secondary genetic findings.
@nl
prefLabel
Clinical exome performance for reporting secondary genetic findings
@en
Clinical exome performance for reporting secondary genetic findings.
@nl
P2860
P50
P1433
P1476
Clinical exome performance for reporting secondary genetic findings
@en
P2093
Larry J Kricka
Paolo Fortina
P2860
P304
P356
10.1373/CLINCHEM.2014.231456
P407
P577
2014-11-20T00:00:00Z