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PacBio Unveils PureTarget: Revolutionizing High-Throughput Carrier Screening

10/1/2025

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Summary

Story summary

Pacific Biosciences (PacBio) launches PureTarget suite for high-throughput carrier screening, consolidating assays into a single test.
Using PacBio HiFi sequencing, PureTarget covers all tier 3 genes per ACMG standards in 24- and 96-sample formats.
The solution aims to boost efficiency and access, noting up to 71% of individuals carry pathogenic variants and labs can run up to 100,000 tests annually.

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Story summary

Pacific Biosciences (PacBio) launches PureTarget suite for high-throughput carrier screening, consolidating assays into a single test.
Using PacBio HiFi sequencing, PureTarget covers all tier 3 genes per ACMG standards in 24- and 96-sample formats.
The solution aims to boost efficiency and access, noting up to 71% of individuals carry pathogenic variants and labs can run up to 100,000 tests annually.