Lucence Life Sciences Pte Ltd.

Chae Yin Cher

Min-Han Tan

Yukti Choudhury

Jia Min Ho

Pannapa Pinweha

Kao Chin Ngeow

METHOD OF DETECTING AND QUANTIFYING GENOMIC AND GENE EXPRESSION ALTERATIONS USING RNA

Disclosed is a method of detecting and quantifying genomic and gene expression alterations using RNA in a biological sample. The disclosed method may include determining presence or absence of the genomic alteration and/or determining presence or absence of the gene expression and/or quantifying the level of the gene expression, by performing variant calling of the sequence alignment obtained from the disclosed method. Variant calling may comprise the steps of identifying differences between a consensus read and a reference genome based on the sequence alignment from the disclosed method; and determining the read count of sequence alignments comprising genomic alteration. The genomic alteration may be an insertion (such as a duplication), a deletion, a single nucleotide variant, or combinations thereof. Also disclosed is a kit for detecting and quantifying genomic and gene expression alterations using RNA in a biological sample.

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Singapore, Singapore

Chae Yin Cher