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Ending Sawyer’s 8-Year Diagnostic Odyssey

1806 views | 4 years ago

Sawyer’s journey to a diagnosis began in utero. Admitted at birth to the NICU, Sawyer has been resilient in the face of multiple misdiagnoses, multiple specialists and many uninformative tests. Following...

Ending Donovan’s 6-Year Diagnostic Odyssey

1308 views | 4 years ago

The list of Donovan’s symptoms exceeds 20 conditions and involved nearly a dozen medical specialties. After 6 years, whole-genome sequencing was ordered and identified a variant in the SKI gene and...

Ending Carson & Chase’s 6-Year Diagnostic Odyssey

2268 views | 4 years ago

Carson was initially diagnosed with cerebral palsy, but his brother, Chase, proved that to be a misdiagnosis. It took four more years and whole-genome sequencing to definitively diagnosis Carson and...

The journey to a rare disease diagnosis

30249 views | 4 years ago

Out of darkness and isolation. Into Illumination and connection. With a one-in-a-million kid by your side. Genomic science helps families find the care they need. ------- Subscribe to the Illumina video...

TruSight Oncology 500: Version 2 Analysis Overview

3706 views | 4 years ago

TruSight Oncology 500 is a next-generation sequencing tumor profiling assay that analyzes 523 genes for cancer-related biomarkers and supports the identification of DNA and RNA variants implicated in...

HiSeq 3000/4000: Introduction

1403 views | 4 years ago

This support webinar will review: end-to-end HiSeq 3000/4000 workflow, patterned flow cell technology, ExAmp clustering tips and tricks, and tips and best practices for running and maintaining the instrument....

MiniSeq: Introduction

3184 views | 4 years ago

This support webinar will educate new and experienced Next-Generation Sequencing users to how the MiniSeq sequencing system works, its new features, how dual indexing is performed, best practices and...

Nextera XT: Sample Preparation and Usage

9208 views | 4 years ago

The Nextera XT DNA Library Preparation Kit helps to prepare sequencing libraries for small genomies, PCR amplicaons, plasmids, or CDNA in as little as 90 minutes, with a low DNA input requirement. With...