PGDx Expects New Automated Variant Caller to Support NGS Kit Development

NEW YORK (GenomeWeb) – Investigators from sequencing firm Personal Genome Diagnostics with collaborators at Johns Hopkins and Memorial Sloan Kettering, have described a novel machine-learning tool that they developed to automate and improve NGS variant calling.

They claim that the new caller enables a hands-off and extremely precise assessment of whether variants are legitimate or merely artifacts of the sequencing process.

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