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AMP 2025: Long range PCR meets long-read sequencing to resolve challenging ACMG tier 3 carrier screening genes

Asuragen’s recently launched Carrier Plus assay leverages amplification-based nanopore sequencing in a single workflow to enable high-confidence characterisation of technically challenging genes included in the ACMG Tier 3 carrier screening recommendations. This presentation highlights results from a global multisite evaluation of the assay’s performance and shares preliminary data on expanded content designed to address additional complex regions and genes that remain difficult to resolve with conventional methods.

This talk was originally presented at AMP 2025, Boston.

Authors: Brian Haynes, CSO, Asuragen, a Bio-Techne Brand

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