Quest Diagnostics to Present New Insights from Genetic Testing at the 2018 American Society of Human Genetics Annual Meeting
These studies by
Additionally, Quest utilized ClinVar data to demonstrate a scalable approach to classifying genes and genomic regions related to neurodegenerative disorders. ClinVar is a public gene database, and Quest is a participating laboratory.
"The science behind the treatment and management of genetic diseases is making leaps and bounds, but in order to deliver that care, you first need diagnostic insights that come from unlocking the genetics of the patient,"
Quest is a leader in advanced diagnostics, including in the areas of genetic and genomics. The company offers more than 700 genetic tests, such as BRCA and tumor sequencing to noninvasive prenatal screening. The company's 650 MDs and PhDs aid physician test selection and interpretation and publish hundreds of studies each year. Additionally, our genetic counselors are a resource for clinicians.
Abstracts can be accessed on the ASHG 2018 Annual Meeting website at: http://www.ashg.org/2018meeting/pages/online-planner.shtml
- "Detection of alpha-thalassemia common large deletions by next generation sequencing" (Poster: 2860)
- "Scaling the resolution of sequence variant classification discrepancies in ClinVar" (Poster: 3046)
- "Evaluating dosage sensitivity of genes associated with neurodevelopmental disorders" (Poster: 2936)
- "A straightforward method to improve variant calling sensitivity for a MSH2 splicing mutation (c.942+3A>T) using GATK tools" (Poster: 1568)
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