Best Tools and Practices for CNV Variant Calling in WES Data
What are the best tools for CNV variant calling in the context of whole exome sequencing (WES) analysis?
I’m currently working on a project focused on CNV detection in autistic subjects, where we aim to strike a balance between precision and sensitivity. Detected variants will undergo further evaluation, considering clinical presentation, inheritance patterns, and more, with the goal of achieving both clinical relevance and accuracy.
I could use your help with your experiences, recommendations, and insights regarding effective tools and any best practices you’ve adopted.
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