Best Tools and Practices for CNV Variant Calling in WES Data
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10 days ago
Nadav ▴ 10

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

CNV WES • 180 views

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