White papers - Blueprint Genetics

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The genetic horizon – Improving clinical sensitivity in difficult-to-sequence genes for rare hereditary disorders

October 17, 2018

White paper This whitepaper is about opening the black box of difficult-to-sequence genes, customized sequencing solutions, and what are the next areas of interest in our R&D pipeline.

Validation of clinical testing – Setting a new standard for clinical testing through fully transparent validation

May 31, 2017

WHITE PAPER Comprehensive analytic validation is a critical step in transparent genetic diagnostics. It demonstrates the quality and performance of the pipeline, and is the foundation for setting quality standards for the carried tests.

Whole Exome Sequencing: Maximizing the diagnostic yield in various clinical indications

September 14, 2016

White paper Reaching a correct genetic diagnosis in a timely manner allows for appropriate disease management and can significantly improve a patient’s quality of life. Whole-exome sequencing (WES) is a robust and one of the most comprehensive genetic tests to identify the disease-causing changes in a large variety of genetic disorders.

From sample to diagnosis: Genetic testing with Blueprint Genetics

June 16, 2016

White paper If you suspect your patient has a specific inherited disorder, genetic testing provides answers to help you determine what’s next on your patient’s care path. Read our white paper to find out how genetic diagnostics is done at Blueprint Genetics.

Why do genetic testing?

June 02, 2016

White paper Blueprint Genetics provides the most cost-effective, rapid, and actionable genetic diagnostics to clinicians available today. For more information about how our services could help you in diagnosing your patients, download our white paper.

A guide to understanding variant classification

May 24, 2016

White paper In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. Read our white paper to find out how we classify genetic variants when interpreting patients results.

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