Download our new Application Note about the automation of the HCS by SOPHiA GENETICS, the first capture-based application, which has received the CE-IVD mark.
This protocol is frequently requested in the field, especially in the clinical environment where minimizing human intervention is a plus.
During this validation study, all confirmed variants (SNVs and Indels) were reliably called and all CNVs have been detected, including gene conversion events in PMS2/PMS2CL.
This app note describes the automation of 2 protocol steps, whole genome library preparation & target capture, with Pre & Post-PCR workflows performed on the same deck layout.
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