A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
about
The Human Phenotype Ontology in 2017Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases.Settling the score: variant prioritization and Mendelian disease.A new method to measure the semantic similarity from query phenotypic abnormalities to diseases based on the human phenotype ontology.Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
P2860
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P2860
A visual and curatorial approach to clinical variant prioritization and disease gene discovery in genome-wide diagnostics.
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
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@ast
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@en
type
label
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@ast
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@en
prefLabel
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@ast
A visual and curatorial approa ...... ry in genome-wide diagnostics.
@en
P2093
P2860
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A visual and curatorial approa ...... ery in genome-wide diagnostics
@en
P2093
Chad A Shaw
Christine M Eng
Edward S Chen
James R Lupski
Matthew N Bainbridge
Mitchell A Rao
Philip M Boone
Regis A James
Yaping Yang
P2860
P2888
P356
10.1186/S13073-016-0261-8
P577
2016-02-02T00:00:00Z
P5875
P6179
1007837205