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Newborn Screening Second Tier Molecular Testing for Lysosomal Storage Diseases and X-linked…

This poster demonstrates analysis of sequencing data reflexed from positive NBS

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Application of Whole Exome sequencing in identifying sequence variants and copy number variants in…

Whole Exome Sequencing (WES) data to detect pathogenic structural variants

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Experience from the First 330 Cases of Low Pass Genome Sequencing (5X) Demonstrates Clinical…

CNGnome® can detect a wide range of genomic changes, including aneuploidies

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Fast Forward –is Multiomics a resurgence of old?

This poster shed lights on the correlation between biochemical results and

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Genetic testing for APOB, LDLR, PCSK9, and LDLRAP1 suggest that FH testing may be underutilized

This eposter highlights the prevalence of Familial hypercholesterolemia, to

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Multiplexed Measurement of Enzyme Activities Associated with Seven Lysosomal Storage Disorders from…

An assay has been successfully developed that allows for the direct measurement

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Shining a light on diagnosis of rare genetic disorders: the lantern project

The study helps to identify a larhger patient pool with potential to attract

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Utilizing Advanced Genomic Technologies to Identify Dual Diagnoses

The ability of whole genome sequencing and the whole exome sequencing helps in

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Extending and Adapting the Functions of Genetic Laboratories During the COVID-19 Pandemic-…

Given the current global awareness of respiratory virus activity and spread

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Whole genome sequencing is a powerful “one-stop shop” screening assay for uncovering undiagnosed…

This abstract indicates that WGS screening can serve as a “one-stop shop” for

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Limb-Girdle Muscular Dystrophy and other Myopathy Patients Diagnostic Yield in Large Cohort of more…

NGS panel study greatly helped to identify LGMD subtypes as well as other

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New and improved library preparation kit for your RNA sequencing needs.

This flyer describes the benefits of the NEXTFLEX® Rapid Directional RNA-seq 2.0

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