助您进行罕见病研究

罕见病和未确诊疾病研究

新一代测序(NGS)技术可以用于罕见病和未确诊疾病的研究,通过同时评估多个基因,找出与遗传疾病相关的致病变异。传统的测序方法价格昂贵,充满不确定因素,同时需要大量的检测,而NGS可以降低成本。

遗传健康
罕见病和未确诊疾病
Rare Disease Genomics Studies Unlock the Molecular Mechanisms of Human Disease

Whole-exome and transcriptome sequencing prove beneficial in uncovering mutations and pathways associated with rare disease.

Learn More
改善检测性能
  • 先进的技术提供了比传统方法更灵敏和准确的检测性能
经济高效的解决方案
  • 高通量能力降低了每个样本的测序成本,可以覆盖更大的基因组合,从而消除进行多项检测的需求
一体化的工作流程
  • 包含预设计的专家精选内容,使用成熟的Illumina NGS技术,可提高分析效率,降低日常费用
准确的结果
  • 高度均匀的覆盖可实现高度准确的变异检出,非常适合基因组研究实验室

其中80%有遗传病因,它们可以通过NGS和TruSight One靶向panel来发现。1–2TruSight One是一款靶向基因panel,可利用NGS同时分析多达4813个与罕见疾病相关的基因。

医学基因组计划

该联盟的主要机构正在努力普及临床全基因组测序(cWGS)来诊断罕见遗传病。

了解更多

Featured Rare Disease Genomics Stories

Progress for Patients with Rare and Undiagnosed Genetic Diseases
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 Article
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease
NGS Identifies Rare Disease Variants in Infants with Undiagnosed Disease

Landmark NGS study leads to a national clinical diagnostic exome sequencing platform in Singapore.

Read Article
The Diagnostic Odyssey
The Diagnostic Odyssey

Families facing rare diseases can spend up to eight years pinpointing the problem in solitude – until now. See how hope and perserverence is uniting families.

Read Article
全面的罕见变异分析

TruSight软件套装旨在帮助高通量实验室检出变异、进行优先级排序并报告罕见病相关变异,所有功能都可以通过同一个软件界面来实现。

了解更多
全面的罕见变异分析

Illumina提供经济、简便的靶向NGS解决方案,可让您研究特定的罕见病和未确诊疾病。

NextSeq 550

在一台NextSeq 550系统上完成NGS和细胞基因组芯片扫描。

TruSight One Sequencing Panel

TruSight One Sequencing Panel能以高分析灵敏度和特异性靶向外显子中的疾病相关区域。

图像

Illumina DRAGEN Bio-IT平台能够对全基因组和全外显子组测序数据进行准确、超快速的二次分析,从而促进罕见病的研究。3,4

Bringing Bioinformatics Pipeline In-House Reduces Costs and Decreases Turnaround Time

Phosphorus使用DRAGEN Bio-IT平台在本地经济高效地开展基因组学数据分析。

Read Article
/content/dam/illumina-marketing/images/iCommunityImages/data-analysis-phophorus.jpg
参考文献
  1. 国立卫生研究院。“罕见病临床研究网络概况。”
  2. 全球基因计划。“罕见病:事实和统计数据。”
  3. Bio IT World.Children’s Hospital Of Philadelphia, Edico Set World Record For Secondary Analysis Speed.October 23, 2017.www.bio-itworld.com/2017/10/23/childrens-hospital-of-philadelphia-edico-set-world-record-for-secondary-analysis-speed.aspx.Accessed September 19, 2018.
  4. The San Diego Union Tribune.Rady Children's Institute sets Guinness world record.February 12, 2018.www.sandiegouniontribune.com/news/health/sd-no-rady-record-20180209-story.html.Accessed September 19, 2018.