Rare disorders have many faces: in silico characterization of rare disorder spectrum

被引：0
作者：
Simona D. Frederiksen
Vladimir Avramović
Tatiana Maroilley
Anna Lehman
Laura Arbour
Maja Tarailo-Graovac
机构：
[1] University of Calgary,Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine
[2] University of Calgary,Alberta Children’s Hospital Research Institute
[3] University of British Columbia,Department of Medical Genetics
来源：
Orphanet Journal of Rare Diseases | / 17卷
关键词：
Borderline-common; Diagnostics; Pipelines; Developmental defect; Neurological; Causative genes; Phenotypes; Pathway analysis; Orphanet;
D O I：
暂无
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学科分类号：
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[51]  
Hurles ME(2014)circlize Implements and enhances circular visualization in R Bioinformatics 47 D419-undefined
[52]  
FitzPatrick DR(2019)PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools Nucleic Acids Res 14 703-undefined
[53]  
Firth HV(2019)Protocol update for large-scale genome and gene function analysis with the PANTHER classification system (v.14.0) Nat Protoc undefined undefined-undefined
[54]  
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