Verfahren zur Analyse einer Biologischen Materialprobe mit einer Pipettierstation zum Nachweis von Mosaikgenvarianten mit Sehr Niedriger Häufigkeit des Auftretens

Details

Veröffentlichungs-Nr.

EP4800122

Anmeldetag

3. März 2025

Veröffentlichung

2. September 2026

Rechtsraum

EP

Abstract

The subject of the invention is a method for analyzing a biological material sample using a pipetting station to detect mosaic genetic variants at a very low frequency in genes. The method involves the isolation of DNA from a peripheral blood sample, followed by the preparation of DNA libraries for duplex sequencing and subsequent bioinformatic analyses. The method is characterized in that: a) DNA samples are prepared and mechanical DNA fragmentation is performed using an ultrasonic device; b) The resulting DNA fragments of approximately 500 base pairs undergo enzymatic reactions, adapter ligation, incubation, and purification using magnetic beads, where the enzymatic reactions include repairing the ends of fragmented DNA, ligation of the dedicated adapters, and amplification using PCR; c) Amplification and hybridization of dedicated molecular probes targeting the human genome region are carried out; d) The quality and quantity of the obtained DNA libraries are verified, followed by sequencing. The results are analyzed using bioinformatic tools, producing a list of genetic variants along with their frequency in the studied gene(s). Steps b) and c) of the method are performed using the Bravo NGS pipetting station from Agilent Technologies.

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Firmen

Gdanski Uniwersytet Medyczny
Fundació Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol

Land

🇵🇱 Polen