Targeted next-generation sequencing

Intervention

1 paper1 finding

  • 1 lab in 1 country
  • Humans1

Outcomes

1

Familial hypercholesterolaemia detection

upin humans1

1 study
  1. Targeted next-generation sequencing increases familial hypercholesterolaemia detection in humans (41.1% (81/197)).

    HumansDLCN ≥ 6 index casesn = 197

    Cascade screening amplifies familial hypercholesterolaemia detection after clinically guided next- generation sequencing

    Research Square12 Aug 2026Preprint

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