Long-read Human Genome Sequencing in 72 Hours: "Ultra Rapid GEnome Sequencing"
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- Time (in hours) for long read human genome sequencing and data interpretation
研究概览
简要总结
Next-generation sequencing (NGS) has revolutionized the field of genomics, allowing the detection of genetic abnormalities for diagnostic or therapeutic purposes. Turnaround times for exome or genome sequencing results have decreased to an average of 3 to 6 months.
An increasing number of diagnostic and therapeutic fields are benefiting from the advancements in ultra-rapid sequencing. In some situations, a shorter turnaround time may be useful for making therapeutic and/or interventional management decisions.
This study aims to explore the feasibility of very rapid whole-genome sequencing, ultra-rapid genome sequencing (URGES) in 72 hours, that could benefit patients with cancer or rare diseases.
详细描述
- Blood sample (5 ml)
- Extraction of genomic DNA from lymphocytes
- Ultra-rapid genome sequencing (48 hours for a whole genome), using the PromethION P2 Solo sequencer (Oxford Nanopore Technologies)
- Bioinformatics analysis of raw high-throughput sequencing data with SeqOne platform
- Medical interpretation of molecular data: NGS data must be interpreted by a multidisciplinary decision-support team to determine mutation actionability and identify potential "drivers"
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •No known progressive or chronic diseases
- •Consent for participation
- •Affiliation to a social security system
排除标准
- •Unable to understand
- •Pregnant or breastfeeding women
- •Subject under protection of the adults (guardianship, curators or safeguard of justice)
结局指标
主要结局
Time (in hours) for long read human genome sequencing and data interpretation
时间窗: 72 hours
Time (in hours) to complete a long-read human genome sequencing, from the extracted DNA to the molecular and clinical results
次要结局
- Sequencing depth(72 hours)
- Sequencing coverage(72 hours)
- Number of variants called appropriately or not(72 hours)