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...
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
This thesis describes a new approach to the detection of protein stability change upon amino acid mu...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
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...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
The volume and diversity of biological data are increasing at very high rates. Vast amounts of prote...
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
This thesis describes a new approach to the detection of protein stability change upon amino acid mu...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
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...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
Single amino-acid substitution in a protein affects its structure and function. These changes are th...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
The volume and diversity of biological data are increasing at very high rates. Vast amounts of prote...
Motivation: Single Nucleotide Polymorphisms (SNPs) are the most frequent type of genetic variation i...
This thesis describes a new approach to the detection of protein stability change upon amino acid mu...
More reliable and faster prediction methods are needed to interpret enormous amounts of data generat...