Resources for molecular diagnostic sequencing assays

Featured publications and system literature for the MiSeqDx System

MiSeqDx Resources

Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genet Med 18 231-8 2016

Read Abstract

Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.

Hum Mutat 37 201-8 2016

Read Abstract

Next-Generation Molecular Testing of Newborn Dried Blood Spots for Cystic Fibrosis.

J Mol Diagn 18 267-82 2016

Read Abstract
MiSeqDx Instrument Reference Guide

Information about instrument components and software, performing a sequencing run, and maintenance.

Access PDF
MiSeqDx Instrument Site Prep Guide

Preparing a lab for the MiSeqDx Platform: lab space, electrical, and bench requirements, and user-supplied consumables.

Access PDF
Personalized Training Workflow Selection Tool

This tool will help you determine the best hands-on sequencing training for your needs based on your area of interest, application, library preparation kit, and platform.

Learn More
Sequencing Coverage

Sequencing coverage describes the average number of NGS reads that align to known reference bases. Coverage requirements vary by application.

Learn More
Quality Scores

Additional information about sequencing quality scores, how they are calculated, and the relationship between quality score and base call accuracy.

Learn More
MiSeqDx Documentation

User guide, safety guide, site preparation guide, and related application and tech notes for the MiSeqDx instrument.

View Documentation
Sequencing Troubleshooting Tips

These short videos provide expert tips for common sequencing issues such as overclustering and inconsistent quantitation.

Learn More