为了实现精准医疗的潜力,必须大规模地积累遗传学信息。高通量基因分型研究对于生成这种规模的数据和鉴定疾病关联至关重要。目前,芯片是基因分型的优选平台,它们可以让研究人员在疾病队列或群体中分析数百万个标记。
高通量基因分型数据对于药物基因组学、消费者基因组学、人群研究和临床实践具有巨大的价值。这些研究不仅能鉴定疾病遗传风险因子,也能鉴定与药物反应相关的基因型。最后,这些信息能带来更好的健康管理和更成功的治疗策略。
芯片是鉴定疾病关联或表征群体的大规模基因分型研究的理想选择。Illumina芯片具有多种优势。
MyDNA partnered with Illumina, providing customers with access to its MyDNA software platform to make the most of the data produced and to enhance their reports.
Genesis Healthcare aims to help people make proactive lifestyle adjustments by offering direct-to-consumer kits based on the Infinium HumanCoreExome Array.
High-throughput Infinium arrays help WeGene provide personal genetic testing services and support human genome research studies.
Genome-wide association studies have identified thousands of variants with putative roles in different diseases and complex traits. However, going from statistical associations to true insight into mechanisms of disease or biology remains an incredible challenge for the field.
Powerful combinations of high-throughput experimental assays, single-cell approaches and computational analyses are accelerating the ability to link variants to function, and by extension, link genotype to phenotype.
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