Medical Genome Initiative
This consortium of leading institutions is working to expand access to clinical whole genome sequencing (cWGS) for the diagnosis of genetic disease.
Learn More以基因组学解决方案在遗传健康方向推进技术突破
Illumina技术是遗传疾病研究的先锋，在遗传健康方向帮助推进技术突破。由于遗传疾病的重要影响和世界范围内所有年龄和家庭成员发生罕见疾病的条件，我们的焦点是开发促进早期检查和干预的方案。这能帮助改善结果、促进持久的身体健康和唤起个体对遗传健康重要性的意识。
受遗传疾病影响的人比人们预想的更多。目前1/5的婴儿死亡率和大约18%儿童医院就诊患者与此有关。1 15-20%发育迟缓儿童可发现潜在的遗传病因。2 对于成人，25%心脏骤停与遗传疾病有关。3,4 我们的靶向基因panel、芯片和新一代测序技术能够帮助遗传病研究人员鉴定致病遗传变异和染色体异常，且可能会有早期发现。
“例如CytoSNP-850K BeadChip芯片能使我们在高分数样本中发现表型链，其在研究中展现出的巨大优势使我们关于癌症遗传基础和其他疾病的知识爆炸式增长。”
Featured Genetic Health Articles
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease
Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.
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Scaling from Exome to Whole-Genome Sequencing
The DRAGEN platform enables GeneDx to scale to whole-genome analysis and identify variants with precision.
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Progress for Patients with Rare and Undiagnosed Genetic Diseases
The Blue Cross Blue Shield Association (BCBSA) technology review organization, known as Evidence Street®, issues review supporting whole-genome sequencing.
Read ArticleComprehensive Rare Variant Analysis
The TruSight Software Suite is designed to help high-throughput labs call, prioritize, and report on variants associated with rare disease—all from one software interface.
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President and CEO, Francis deSouza Speaks at HLTH
An in-depth conversation about the future of genomics with CNBC's Meg Tirrell.
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Learn More参考文献
- Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012; e4f9877ab8ffa9.
- Miller DT, Adam MP, Aradhya S, et al. Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010: 86(5): 749-764.
- Deo R, Albert CM. Epidemiology and genetics of sudden cardiac death. Circulation. 2012;125(4):620-637.
- Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Europace. 2001;13(8):1077-1109.