PON-P: integrated predictor for pathogenicity of missense variants. - Wikidata - awgldk - TriplyDB

PON-P: integrated predictor for pathogenicity of missense variants.

PON-P: integrated predictor for pathogenicity of missense variants.

http://www.wikidata.org/entity/Q39364474

about

Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK PON-P2: prediction method for fast and reliable identification of harmful variants NeEMO: a method using residue interaction networks to improve prediction of protein stability upon mutation.Characterization of all possible single-nucleotide change caused amino acid substitutions in the kinase domain of Bruton tyrosine kinase.Computational approaches to study the effects of small genomic variations.Impact of genetic variation on three dimensional structure and function of proteins.Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data.A nucleosomal approach to inferring causal relationships of histone modifications.Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa Improving the prediction of the functional impact of cancer mutations by baseline tolerance transformation.How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis.VariBench: a benchmark database for variations.Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Functional and structural analysis of C-terminal BRCA1 missense variants.Prediction of disease causing non-synonymous SNPs by the Artificial Neural Network Predictor NetDiseaseSNP.Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.Performance of protein disorder prediction programs on amino acid substitutions.Fine-mapping the 2q37 and 17q11.2-q22 loci for novel genes and sequence variants associated with a genetic predisposition to prostate cancer Majority vote and other problems when using computational tools.Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies VariSNP, a benchmark database for variations from dbSNP.RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families Types and effects of protein variations.Insight into neutral and disease-associated human genetic variants through interpretable predictors The road from next-generation sequencing to personalized medicine.Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations PON-mt-tRNA: a multifactorial probability-based method for classification of mitochondrial tRNA variations RAD51B in Familial Breast Cancer Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants KinMutRF: a random forest classifier of sequence variants in the human protein kinase superfamily.Predicted Molecular Effects of Sequence Variants Link to System Level of Disease Survey of variation in human transcription factors reveals prevalent DNA binding changes.Evolutionary balancing is critical for correctly forecasting disease-associated amino acid variants.Towards precision medicine: advances in computational approaches for the analysis of human variants GREM1 and POLE variants in hereditary colorectal cancer syndromes.REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations.

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P2860

PON-P: integrated predictor for pathogenicity of missense variants.

http://www.wikidata.org/entity/Q39364474

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

PON-P: integrated predictor for pathogenicity of missense variants.

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PON-P: integrated predictor for pathogenicity of missense variants.

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type

label

PON-P: integrated predictor for pathogenicity of missense variants.

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PON-P: integrated predictor for pathogenicity of missense variants.

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prefLabel

PON-P: integrated predictor for pathogenicity of missense variants.

@en

PON-P: integrated predictor for pathogenicity of missense variants.

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PON-P: integrated predictor for pathogenicity of missense variants.

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Ayodeji Olatubosun

http://www.w3.org/2001/XMLSchema#string

Jani Härkönen

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Janita Thusberg

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Jouni Väliaho

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P2860

Predicting deleterious amino acid substitutions

SCUBE3 is an endogenous TGF-β receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer

RPS6KA2, a putative tumour suppressor gene at 6q27 in sporadic epithelial ovarian cancer

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer

dbSNP: the NCBI database of genetic variation

Ongoing and future developments at the Universal Protein Resource

A map of human genome variation from population-scale sequencing

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1166-1174

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scholarly article

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10.1002/HUMU.22102

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8

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33

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