Asuragen Scientific Publications

Asuragen has researched and published extensively in genetics, oncology, molecular diagnostics, and technology advancements for over 15 years. These publications, posters, and white papers cover various disease areas and their related genes including fragile X (FMR1), spinal muscular atrophy (SMN1/SMN2), cystic fibrosis (CFTR), and chronic myeloid leukemia (BCR-ABL1). They show the power of detecting and interpreting molecular alterations using AmplideX and QuantideX technologies as well as the value of Molecular Quality Controls and companion diagnostics collaborations to deliver new insights and advance precision medicine. Simply search by term, filter by category, or use both to find your area of interest.

We’re driven to provide people with better answers, so we ensure our products are supported by reliable data and backed by rigorous science. Dive into these publications to learn more.

FMR1 methylation and sizing PCR assays improve sensitivity and efficiency in clinical testing for Fragile X syndrome, revealing some uncommon and unexpected results
Collaboration with Greenwood Genetic Center - Presented at ASHG
Clinical validation and implementation of a highly efficient and sensitive dual molecular diagnostic assay for myotonic dystrophy type 1
Collaboration with Children's Mercy Hospital - Presented at ASHG
A Deep Learning Framework for Interpreting Repetitive DNA Sequence in Heritable Disease
Jessica Larson, Ph.D. - Presented at ASHG
Comparison of the QuantideX® qPCR BCR-ABL IS Kit and the modified EAC protocol for the monitoring of major molecular response in CML patients.
Ruhksaar Ali - Presented at the John Goldman Conference on CML
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles
Nolin SL, et al. Am J Med Genet A. 2019 Jul;179(7):1148-1156.
Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements
He HJ, et al. J Mol Diagn. 2019 Jul;21(4):658-676.
Analytical Validation of a Highly Sensitive, Multiplexed Chronic Myeloid Leukemia Monitoring System Targeting BCR-ABL1 RNA
Brown JT, et al. J Mol Diagn. 2019 Jul;21(4):718-733.
An Integrated Next-Generation Sequencing System for Analyzing DNA Mutations, Gene Fusions, and RNA Expression in Lung Cancer
Haynes BC, et al. Transl Oncol. 2019 Jun;12(6):836-845.
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers
Domniz, N., et al. Front Genet. 2018 Dec 13;9:606.
A novel repeat-primed PCR assay to detect the full range of trinucleotide CAG repeats in Huntingtin gene (HTT)
Asuragen collaboration with Istituto CSS-Mendel - Presented at ESHG
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