Hi Everyone,

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.

Thanks, Nadav