Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.
about
The Human Phenotype Ontology in 2017Initiating an undiagnosed diseases program in the Western Australian public health system.Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular reportExpect the unexpected: screening for secondary findings in clinical genomics research.Evaluation of exome filtering techniques for the analysis of clinically relevant genes.Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.Diagnostic outcomes of exome sequencing in patients with syndromic or non-syndromic hearing loss.Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.
P2860
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P2860
Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Phenotype-driven gene target d ...... equencing data interpretation.
@ast
Phenotype-driven gene target d ...... equencing data interpretation.
@en
type
label
Phenotype-driven gene target d ...... equencing data interpretation.
@ast
Phenotype-driven gene target d ...... equencing data interpretation.
@en
prefLabel
Phenotype-driven gene target d ...... equencing data interpretation.
@ast
Phenotype-driven gene target d ...... equencing data interpretation.
@en
P2093
P2860
P50
P356
P1433
P1476
Phenotype-driven gene target d ...... sequencing data interpretation
@en
P2093
Ana Blatnik
Gorazd Rudolf
Karin Writzl
Peterlin Borut
P2860
P2888
P304
P356
10.1038/GIM.2016.22
P407
P577
2016-03-31T00:00:00Z