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Ambry Starts Rare Disease Study - Orange County Business Journal

Genetic testing firm Ambry Genetics and Pacific Biosciences of California Inc. are working together to find the genetic cause of rare diseases in pediatric patients.PacBio (Nasdaq: PACB), a biotechnology company in Menlo Park valued at $524 million, manufactures gene sequencing technology for scientists and clinical researchers.

United statesOrange countyMenlo parkCharles dunlopTom schoenherrPacific biosciencesNational institutes of healthKonica minoltaCalifornia incInvitae corpKonica minolta incRealm idx incUniversity of californiaAmbry geneticsGenomics researchRare diseases

Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases

Ambry Genetics and PacBio Announce Collaboration to Sequence Up to 7,000 Human Genomes Aimed at Providing Answers for Families Battling Rare Diseases
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Aliso viejoUnited statesTodd friedmanTom schoenherrGwen gordonEric vilainPacific biosciencesChristian henryCalifornia incSecurities exchangeExchange commissionRealm idx incResearch useInstitute for clinicalGregor consortiumPediatric mendelian genomics research center

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