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Optimizing Scalpel for Indel Detection by Latheef Personal is a document available to read on EtoBox.
What is Optimizing Scalpel for Indel Detection about?
The document discusses the Scalpel software for indel discovery, highlighting its capabilities and limitations, particularly in detecting mutations within short tandem repeat (STR) regions. It provides detailed guidance on adjusting parameters for various scenarios, such as deep sequencing and detecting long indels, while emphasizing the importance of a high-quality reference genome. The protocol also outlines the steps for identifying de novo variants in a family context and the challenges associated with
- Author
- Latheef Personal
- Language
- EN