Progress in Rapid Identification of Variants Linked to Genetic Diseases

8 August 2016

Learn how DNA sequencing is leading to progress in the rapid identification of variants that might be involved in genetic diseases. Thanks to this work, Dr Kingsmore and his team now hold a Guinness World Records® title.

Learn more at:
https://www.illumina.com/techniques/sequencing/dna-sequencing.html

rchsd.org/about-us/newsroom/press-releases/dr-stephen-kingsmore-sets-guinness-world-records-title-for-fastest-genetic-diagnosis

Products:
TruSeq® sample preparation kit: illumina.com/products/by-type/sequencing-kits/library-prep-kits/truseq-rna-v2.html

Illumina HiSeq®: illumina.com/systems/sequencing-platforms/hiseq-2500.html

Illumina Human CytoSNP-12 BeadChip: illumina.com/products/by-type/clinical-research-products/human-cytosnp-12.html

Illumina Human 1M-Duo BeadChip: support.illumina.com/array/array_kits/human1m-duo_dna_analysis_kit.html


For Research Use Only. Not for use in diagnostic procedures.

Publication Links:
PMID: 25985138 | Taylor, et al. (2015): ncbi.nlm.nih.gov/pubmed/25985138
PMID: 25985138 | Willig, et al. (2015): ncbi.nlm.nih.gov/pubmed/25937001
PMID: 25985138 | Miller, et al. (2015): ncbi.nlm.nih.gov/pubmed/26419432

The Science Mondays (SciMon) series is brought to you by Illumina illumina.com
Illumina hosts Irene Predazzi, Sr Scientific Liaison, of Scientific Affairs, and Jacques Retief, Associate Director of Scientific Affairs, give you a quick report on breaking news.

A global genomics leader, Illumina provides comprehensive next-generation sequencing solutions to the research, clinical, and applied markets. Illumina technology is responsible for generating more than 90% of the world’s sequencing data.* Through collaborative innovation, Illumina is fueling groundbreaking advancements in oncology, reproductive health, genetic disease, microbiology, agriculture, forensic science, and beyond.
*Data calculations on file. Illumina, Inc., 2015.

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