Illumina's HiSeq X Ten Sequencing Technology for Population Studies
News Jul 22, 2014
Sidra Medical and Research Center will house a first-of-its-kind facility, the High-Throughput Genomics Center, to undertake population studies and genetic sequencing for the MENA region. The facility will provide Qatar and the region access to the latest technology to help advance genetic mapping projects. The facility's early phase of development is the creation of the Arab consensus genome, which will allow for a deeper understanding of genetic variants that contribute to the health of the Arab population.
Sidra, Illumina Inc. and Alliance Global, Illumina's partner in the Middle East, will work together to implement next-generation sequencing technologies at Sidra's new High-Throughput Genomics Center, set to ramp up operations over the next year. The initial focus of the facility will cater primarily to high-end applications, including human whole genome sequencing for rare genetic diseases and population studies using Illumina's ultra-high-throughput HiSeq X Ten Sequencing System. Genome sequencing and population studies are an exciting new field of research, enabling scientists to create truly personalized care based on an individual's own genetic makeup. It will also help improve the speed and accuracy of diagnosis for many diseases.
"Implementing genomic medicine in and around Qatar requires an Arab reference genome set that will provide an in-depth knowledge of genetic variations in the population group. The new level of sequence-based knowledge of genetic variation will allow us to implement genomic medicine systematically and on a large scale. This will help Sidra to lead the way in personalizing medical treatment and delivering the highest level of care to women and children. What we are trying to achieve is a forward looking research and healthcare model that will also benefit future generations," said Sidra's Chief Research Officer Dr. Francesco Marincola.
Sidra will use insights gained from understanding the population genome to improve patient outcomes, by offering a more rapid and comprehensive diagnostic solution.
"Many of the 3,500 or so genetic diseases are known to manifest symptoms within the first month of a child's life and targeted tests will enable biomedical markers to be identified earlier. For example, testing women for the BRCA gene mutation, which is linked to a higher risk of developing breast cancer, can lead to early diagnosis and treatment, increasing the chances of survival," continued Dr. Marincola.
Sidra's High-Throughput Genomics Center will deliver leading research programs that align with the Qatar National Research Strategy, prioritizing translational research that will bring the latest scientific discovery to the bedside.
"We are very excited to be part of this landmark initiative in Qatar. Sidra's High-Throughput Genomics Center, powered by Illumina sequencing technology, has the opportunity to become a genomics center of excellence in the Middle East. Our technology will help drive a sequencing program on a national population scale with the goal of creating actionable information to improve the human condition," said Rick Klausner, M.D., Chief Medical Officer of Illumina.
Sidra aims to harness the transformational impact of genomic medicine by contributing to the genome project announced by Her Highness Sheikha Moza bint Nasser at the WISH conference in December 2013. It will begin by testing select groups of participants in the fall.
Computer scientists at Carnegie Mellon University say neural networks and supervised machine learning techniques can efficiently characterize cells that have been studied using single cell RNA-sequencing (scRNA-seq). This finding could help researchers identify new cell subtypes and differentiate between healthy and diseased cells.