Mutations in the genomic sequence in both the germline and somatic cells can be pathogenic. It has often been seen that the same genes that are involved in cancer when these genes are mutated in somatic cells and in genetic diseases when mutated in the germline. Here we show that high-throughput data on the frequency of somatic mutations in the most common cancers can be used to predict genes involved in abnormal phenotypes and disease. In this study, a logistic model was constructed to predict the association of a gene with an abnormal phenotype based on its frequency of mutations in tumors. ​

Mutations in the genomic sequence in both the germline and somatic cells can be pathogenic. It has often been seen that the same genes that are involved in cancer when these genes are mutated in somatic cells and in genetic diseases when mutated in the germline. Here we show that high-throughput data on the frequency of somatic mutations in the most common cancers can be used to predict genes involved in abnormal phenotypes and disease. In this study, a logistic model was constructed to predict the association of a gene with an abnormal phenotype based on its frequency of mutations in tumors. ​

Logistic Model to predict the association of a gene with abnormal phenotype based on its frequency of mutations in tumor.

CHIARELLI, ROSARIA RITA
2021/2022

Abstract

Mutations in the genomic sequence in both the germline and somatic cells can be pathogenic. It has often been seen that the same genes that are involved in cancer when these genes are mutated in somatic cells and in genetic diseases when mutated in the germline. Here we show that high-throughput data on the frequency of somatic mutations in the most common cancers can be used to predict genes involved in abnormal phenotypes and disease. In this study, a logistic model was constructed to predict the association of a gene with an abnormal phenotype based on its frequency of mutations in tumors. ​
ENG
Mutations in the genomic sequence in both the germline and somatic cells can be pathogenic. It has often been seen that the same genes that are involved in cancer when these genes are mutated in somatic cells and in genetic diseases when mutated in the germline. Here we show that high-throughput data on the frequency of somatic mutations in the most common cancers can be used to predict genes involved in abnormal phenotypes and disease. In this study, a logistic model was constructed to predict the association of a gene with an abnormal phenotype based on its frequency of mutations in tumors. ​
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14240/83272