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Systems and Methods for Multi-Scale, Annotation-Independent Detection of Functionally-Diverse Units of Recurrent Genomic Alteration
Systems and Methods for Multi-Scale, Annotation-Independent Detection of Functionally-Diverse Units of Recurrent Genomic Alteration
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机译:循环基因组改变的功能多样单元的多尺度,注释独立检测的系统和方法
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摘要
The functional interpretation of somatic mutations remains a persistent challenge in the interpretation of human genome data. Systems and methods for detecting significantly mutated regions (SMRs) in the human genome permit the discovery and identification of multi-scale cancer-driving mutational hotspot clusters. Systems and methods of SMR detection reveal differentially mutated genetic regions across various cancer types. SMR detection and annotation reveals a diverse spectrum of functional elements in the genome, including at least single amino acids, compete coding exons and protein domains, microRNAs, transcription factor binding sites, splice sites, and untranslated regions. Systems and methods of SMR detection optionally including protein structure mapping uncover recurrent somatic alterations within proteins. Systems and methods of SMR detection optionally including differential expression analysis reveal previously unappreciated connections between recurrent and somatic mutations and molecular signatures.
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