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Published in 2019 at "IEEE/ACM Transactions on Computational Biology and Bioinformatics"
DOI: 10.1109/tcbb.2018.2813375
Abstract: Mutation hotspots are either solitary amino acid residues or stretches of amino acids that show elevated mutation frequency in cancer-related genes, but their prevalence and biological relevance are not completely understood. Here, we developed a…
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Keywords:
mutation hotspots;
related genes;
cancer related;
biological relevance ... See more keywords
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Published in 2018 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1007849
Abstract: Sequencing of whole cancer genomes has revealed an abundance of recurrent mutations in gene-regulatory promoter regions, in particular in melanoma where strong mutation hotspots are observed adjacent to ETS-family transcription factor (TF) binding sites. While…
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Keywords:
mutation hotspots;
elevated pyrimidine;
promoter mutation;
formation ... See more keywords
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Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232012709
Abstract: Gilbert’s syndrome is mainly diagnosed through genetic analysis and is primarily detected through a mutation in the promoter region of the UGT1A1 gene. However, most of the research has been conducted on Caucasian populations. In…
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Keywords:
syndrome;
mutation hotspots;
gilbert syndrome;
taiwanese population ... See more keywords