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NEWS

Science, Stories & the Future of Genomics

For clinicians, patients, and the curious — insights on genomics, hereditary conditions, and the stories that remind us why this work matters.

Articles Tagged: Genetic Testing Accuracy

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April 29, 2024

Addressing Disparities in Genetic Testing: Strategies for Improving Variant Classification Accuracy in Underrepresented Populations

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Carrie Horton, Sr. Clinical Research Specialist – Oncology
There are many socio-political factors that contribute to disparities in genetic testing. This blog explores several ways genetic testing laboratories can reduce VUS rates and…
Genetic Testing
Genetic Testing Accuracy
RNA
VUS
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April 2, 2024

Family Trios Gene Reclassification: Optimizing Diagnostic Potential Impact of Exome Sequencing

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Meghan Towne, Genetic Counselor, Reporting- Clinical Genomics
The ability of exome sequencing (ES) to detect variants across the genetic code makes it a powerful diagnostic tool, reducing the number of tests and…
Genetic Testing
Genetic Testing Accuracy
Tag
VUS
Whole Exome Sequencing
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March 28, 2024

APC: New Takes on an Old Gene

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Pathogenic variants in the APC gene cause conditions such as FAP and GAPPS. Marcy Richardson breaks down genotype-phenotype correlations and how they cause one condition…
Colorectal Cancer
Genetic Testing
Genetic Testing Accuracy
Hereditary Cancer
Variant of Unknown Significance
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March 19, 2024

The Benefits of RNA Testing for Neurological Disorders

Targeted RNA analysis using whole blood can provide useful information for variant classification in neurological disorders. RNA evidence improves the accuracy of genetic diagnosis of…
Gene Mutation
Genetic Testing
Genetic Testing Accuracy
RNA
VUS
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January 30, 2024

Ambry Collaborations with GeneMatcher Help Further Disease Gene Discovery and Improve Diagnostic Rates

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Meghan Towne, Genetic Counselor, Reporting- Clinical Genomics
Meghan Towne discusses the partnership of diagnostic laboratories with GeneMatcher to contribute to gene-disease discovery.
Genetic Testing
Genetic Testing Accuracy
Mendelian diseases
VUS
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December 19, 2023

The Path to Clinical Relevance: What a Study on RAD51C Reveals about Resolving VUS

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Marcy Richardson, Variant Assessment Scientist, Ambry Genetics
Marcy Richardson, PhD discusses variant interpretation, VUS, and recategorizing missense genes with an example from Hu et al’s recent publication on RAD51C.
Genetic Testing
Genetic Testing Accuracy
PALB2
RAD51D
Variant of Unknown Significance
VUS