Clinically Validated NGS Assays Miss Challenging But Important Variants, Study Finds

Apr 13, 2018

CHARLOTTE, NC (GenomeWeb) — Laboratories with clinically validated next-gen sequencing assays are having trouble detecting certain complex variants, according to a recent interlaboratory study led by researchers at Invitae, suggesting that better standards are needed to ensure the quality of NGS-based genetic testing.

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