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 “"split-read"”.
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Identification of Genetic Copy Number Variants in Neurodevelopmental Disorders from Genome Sequence Data
… CNVs from whole exome or whole genome sequence reads. However, there are no established best practices for CNV detection, and the use in molecular diagnostics is not routine. This thesis aimed to establish a bioinformatic framework for the identification of causative CNVs from aligned genetic …
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Complete computational sequence characterization of mobile element variations in the human genome using meta-personal genome data
… assembly using discordant and concordant read pairs and split-reads. An essential component of our approach involves utilizing all personal genome data available in the public domain vs. the standard way of using one set of personal genome sequences. The developed tool is the first system …