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.
* 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"
Study Type
OBSERVATIONAL
Enrollment
4
DNA extraction from blood sample and whole genome sequencing
Institut Rafaël
Levallois-Perret, Île-de-France Region, France
Time (in hours) for long read human genome sequencing and data interpretation
Time (in hours) to complete a long-read human genome sequencing, from the extracted DNA to the molecular and clinical results
Time frame: 72 hours
Sequencing coverage
\>30 X respective to refseq BED
Time frame: 72 hours
Sequencing depth
\>30 X respective to refseq BED
Time frame: 72 hours
Number of variants called appropriately or not
Time frame: 72 hours
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