One of the most important weaknesses of this algorithm is that crossover and mutation break the structures of individuals during the evolution process. Although it can lead to better structures, this may break suitable ones and increase the time needed to achieve optimal solutions. Meanwhile, all ...
However, in clinical practice of genetic diagnosis using WES, different types of mutations and mechanisms should be considered simultaneously to identify the pathogenic mutation. With the development of machine learning (ML) and deep learning (DL), many computational methods using ML or DL have been...
We systematically characterized mRNA expression and genetic alterations of 26 RNA modification “writers” in colorectal cancer (CRC), and evaluated their expression pattern in 1697 CRC samples from 8 datasets. We used an unsupervised clustering method to assign the samples into two patterns of express...
A driver mutation is expected to alter the gene expression of its target genes and/or genes that share the same biological pathway13,14, and these changes in gene expression account for the phenotypic variance15. The cell cycle lies at the core of cancer16,17. In normal cells, the cell ...
in B cells, we identified a lymphocyte-specific transcription factor–transcription factor interaction that explains the functional significance of a leukaemia risk predisposing germline mutation8,9,10. In sum, we provide a generalizable and accurate model for transcription together with catalogues of ...
(rs74315329, OR = 5.47). This variant is a nonsense mutation (p.Gln368Ter) inMYOC, known to cause juvenile-onset and adult-onset open-angle glaucoma with dominant inheritance48. This variant is 10-fold more common in the European population compared to the African population and is ...
The somatic mutation spectra for each tumor type were obtained from the Catalogue of Somatic Mutations in Cancer (COSMIC) database (v96) [28], which is a comprehensive resource for investigating somatic mutations (Additional file 1: Table S7). Then we assigned the somatic mutation spectra to ...
Accordingly, the current study develops a robust design method in which the Taguchi method is employed to establish appropriate values for the main GA parameters, namely the crossover rate, the mutation rate and the size of the population. The calibrated GA is used to optimize the parameters of...
A driver mutation is expected to alter the gene expression of its target genes and/or genes that share the same biological pathway13,14 and these changes in gene expression account for the phenotypic variance15. The cell cycle lies at the core of cancer16,17. In normal cells, the cell ...
Transcriptional heterogeneity among malignant cells of a tumor has been studied in individual cancer types and shown to be organized into cancer cell states; however, it remains unclear to what extent these states span tumor types, constituting general features of cancer. Here, we perform a pan-ca...