Official Title: Long-read Human Genome Sequencing in 72 Hours Ultra Rapid GEnome Sequencing
Status: NOT_YET_RECRUITING
Status Verified Date: 2024-08
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: No
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: URGES
Brief Summary: 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 andor 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
Detailed Description: 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