Saphetor Variant Analysis Platform v.5.4

Saphetor has launched the newest version of its Variant Analysis Platform, v.5.4. The updated version has improved variant classification in line with American College of Medical Genetics and Genomics guidelines. It also includes more annotations, such as gnomAD exomes and updated and curated Clinvar data, an improved upload process, and improved read alignment interface for multi-sample analyses.


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