about
Improved exome prioritization of disease genes through cross-species phenotype comparisonHomeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locusThe molecular genetics of Marfan syndrome and related disordersClinical diagnostics in human genetics with semantic similarity searches in ontologiesEscobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitHotSwap for bioinformatics: a STRAP tutorialPhenotype-driven strategies for exome prioritization of human Mendelian disease genes.CA8 mutations cause a novel syndrome characterized by ataxia and mild mental retardation with predisposition to quadrupedal gaitThe Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataThe Human Phenotype Ontology in 2017Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathiesA novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian familyFiltering for compound heterozygous sequence variants in non-consanguineous pedigreesL1Base 2: more retrotransposition-active LINE-1s, more mammalian genomesThe Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across speciesAn expanded evaluation of protein function prediction methods shows an improvement in accuracyCrowdsourced direct-to-consumer genomic analysis of a family quartetThe Matchmaker Exchange: a platform for rare disease gene discoveryClinical interpretation of CNVs with cross-species phenotype dataGetting ready for the Human Phenome Project: the 2012 forum of the Human Variome ProjectNovel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.Phenotype ontologies and cross-species analysis for translational researchPhenoMiner: from text to a database of phenotypes associated with OMIM diseases.Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects.Genomic data sharing for translational research and diagnosticsOntologizing gene-expression microarray data: characterizing clusters with Gene Ontology.Saturation analysis of ChIP-seq data for reproducible identification of binding peaks.A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing dataOntologizer 2.0--a multifunctional tool for GO term enrichment analysis and data exploration.Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis.Gene identification and analysis of transcripts differentially regulated in fracture healing by EST sequencing in the domestic sheep.Microindel detection in short-read sequence data.GOing Bayesian: model-based gene set analysis of genome-scale data.Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactionsImbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding VariantsPhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesNext-generation diagnostics and disease-gene discovery with the Exomiser
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P50
description
hulumtues
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onderzoeker
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հետազոտող
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter N Robinson
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Peter N. Robinson
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Peter Nicholas Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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Peter Robinson
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