We present here a full update of the PMut predictor, active since 2005 and with a large acceptance in the field of predicting Mendelian pathological mutations. PMut internal engine has been renewed, and converted into a fully featured standalone training and prediction engine that not only powers PMut web portal, but that can generate custom predictors with alternative training sets or validation schemas. PMut Web portal allows the user to perform pathology predictions, to access a complete repository of pre-calculated predictions, and to generate and validate new predictors. The default predictor performs with good quality scores (MCC values of 0.61 on 10-fold cross validation, and 0.42 on a blind test with SwissVar 2016 mutations). The PM...
Summary: We present MutaGeneSys: a system that uses genomewide genotype data for disease prediction....
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
Objective This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.co...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
Assessing the impact of amino acid mutations in human health is an important challenge in biomedical...
Amino acid substitutions in proteins can result in an altered phenotype which might lead to a diseas...
The in silico prediction of the functional consequences of mutations is an important goal of human p...
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
none3In recent years the number of human genetic variants deposited into the publicly available data...
Identifying pathogenic variants and underlying functional alterations is challenging. To this end, w...
[Background] Strict guidelines delimit the use of computational information in the clinical setting,...
Summary: We present MutaGeneSys: a system that uses genomewide genotype data for disease prediction....
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
Objective This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.co...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance i...
Assessing the impact of amino acid mutations in human health is an important challenge in biomedical...
Amino acid substitutions in proteins can result in an altered phenotype which might lead to a diseas...
The in silico prediction of the functional consequences of mutations is an important goal of human p...
Here we present an update to MutationTaster, our DNA variant effect prediction tool. The new version...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
none3In recent years the number of human genetic variants deposited into the publicly available data...
Identifying pathogenic variants and underlying functional alterations is challenging. To this end, w...
[Background] Strict guidelines delimit the use of computational information in the clinical setting,...
Summary: We present MutaGeneSys: a system that uses genomewide genotype data for disease prediction....
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
Objective This paper describes the Precision Medicine Knowledge Base (PMKB; https://pmkb.weill.co...