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Updated AI-Powered Genome Reader to Speed Up Rare Disease Diagnosis

Breakthrough Genomics is launching a new version of its fully-automated genome reader aimed at speeding up rare disease diagnosis.

Posted by Andy Lundin | Oct 7, 2024 | Disease States |

The Gazelle Hb Variant Test offers a faster, affordable alternative to traditional lab tests for sickle cell disease and beta thalassemia.

Revvity’s APOE assay allows for precise APOE genotyping to assess patient risks before starting anti-amyloid therapy for Alzheimer’s disease.

Researchers developed AI-powered PCR tech that improves DNA profiling, offering more reliable results for medical applications and more.

Posted by Andy Lundin | Sep 26, 2024 | Prenatal Testing |

A specific genetic variant found in about 7% of Dutch women reduces the accuracy of NIPT, increasing the likelihood of inconclusive results.