Patterns of cancer somatic mutations predict genes involved in phenotypic abnormalities and genetic diseases

Abstract excerpt

Genomic sequence mutations in both the germline and somatic cells can be pathogenic. Several authors have observed that often the same genes are involved in cancer when mutated in somatic cells and in genetic diseases when mutated in the germline. Recent advances in high-throughput sequencing techniques have provided us with large databases of both types of mutations, allowing us to investigate this issue in a sys...

Topics

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• Exome
• Genome, Human
• Genomics
• High-Throughput Nucleotide Sequencing
• Mutation
• Mutation Rate
• Neoplasms
• Sequence Analysis, DNA

Identifiers and source

Literature Corpus work

ad6b68cd-dd45-57cf-8f87-1bfcdd1389df

DOI

10.1101/120121