Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"multi-nucleotide variants"”.
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Mapping the Genomic Context of Mutagenesis
… matrix factorisation to catalogues of single nucleotide variants and other mutation types. However, mutagenesis is a multifaceted event that is affected by the genomic organisation of DNA and cellular processes such as transcription, replication, and DNA repair processes. Moreover, since many …
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Germline mutation in rare disease
… of evolutionary change and disease-causing variants. Understanding the rates and patterns of human mutation can help us learn about their molecular origins, uncover our evolutionary history and improve our ability to identify the genetic causes of human disease. With the advent of exome and …