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Concurrent RNA and DNA sequencing improves variant detection

Concurrent RNA and DNA sequencing improves variant detection
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Aliso viejoUnited statesCarolyn hortonAmerican society of human geneticsAmerican societyHuman geneticsAmbry geneticsDiagnostic outcomesIndividuals undergoing hereditary cancer testing

ASHG 2023: The Power of Diagnosis and Therapy

ASHG 2023: The Power of Diagnosis and Therapy
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Ambry Genetics Unveils at ASHG New Insights on the Use of Multiomic Testing in 43,000 Patient Study

ALISO VIEJO, Calif. (BUSINESS WIRE) Nov 4, 2023

United statesAliso viejoMickie henshallRachid karamTom schoenherrHealth equityAmerican society of human geneticsRealm idx incResearch development at ambry geneticsAmerican societyHuman geneticsDiagnostic yieldInconclusive ratesPathogenic splicing variants dependentSplicing variantsUncertain significance

Ambry Genetics Unveils at ASHG New Insights on the Use of Multiomic Testing in 43,000 Patient Study

Ambry Genetics Unveils at ASHG New Insights on the Use of Multiomic Testing in 43,000 Patient Study
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United statesMickie henshallRachid karamTom schoenherrAmerican society of human geneticsHealth equityResearch development at ambry geneticsRealm idx incAmerican societyHuman geneticsDiagnostic yieldInconclusive ratesPathogenic splicing variants dependentSplicing variantsUncertain significanceAmbry genetics

Ambry Genetics Unveils at ASHG New Insights on the Use of Multiomic Testing in 43,000 Patient Study

Expanding the clinical use of RNA sequencing improves diagnostic yield, reduces inconclusive rates, and improves health equityALISO VIEJO, Calif. (BUSINESS WIRE) Ambry Genetics, a prominent leader in clinical genomic testing and a subsidiary of REALM IDx, Inc., unveiled at the American Society of Human Genetics (A.

United statesTom schoenherrMickie henshallRachid karamAmerican society of human geneticsRealm idx incHealth equityResearch development at ambry geneticsAmbry geneticsAmerican societyHuman geneticsDiagnostic yieldInconclusive ratesPathogenic splicing variants dependentSplicing variantsUncertain significance