Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
about
Unification of multi-species vertebrate anatomy ontologies for comparative biology in UberonImproved exome prioritization of disease genes through cross-species phenotype comparisonPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.Disease insights through cross-species phenotype comparisonsThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe clustering of functionally related genes contributes to CNV-mediated diseaseClinical interpretation of CNVs with cross-species phenotype dataGetting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectToward knowledge support for analysis and interpretation of complex traitsPhenotype ontologies and cross-species analysis for translational researchPrioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.The ontology of craniofacial development and malformation for translational craniofacial researchDeletions of chromosomal regulatory boundaries are associated with congenital disease.An ontology approach to comparative phenomics in plantsEffective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genomeGene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.A knowledge based approach to matching human neurodegenerative disease and animal modelsSCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.Copy number gain of VCX, X-linked multi-copy gene, leads to cell proliferation and apoptosis during spermatogenesis.The humankind genome: from genetic diversity to the origin of human diseases.Capturing domain knowledge from multiple sources: the rare bone disorders use case.The zebrafish anatomy and stage ontologies: representing the anatomy and development of Danio rerio.Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research.Human symptoms-disease network.Use of animal models for exome prioritization of rare disease genes
P2860
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P2860
Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@ast
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@en
type
label
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@ast
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@en
prefLabel
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@ast
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@en
P2093
P2860
P50
P356
P1476
Phenotypic overlap in the cont ...... in humans, mice and zebrafish
@en
P2093
Monte Westerfield
Paul N Schofield
Sandra C Doelken
Sebastian Bauer
Suzanna E Lewis
P2860
P304
P356
10.1242/DMM.010322
P50
P577
2012-10-25T00:00:00Z