Utilizing a long-read method to better comprehend DNA alterations in cancer genomes

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Long-read genomic sequencing appears to clarify a broader genomic picture of DNA abnormalities than short-read sequencing, much as how a flashlight throws a wider beam than the brightest candle when travelling along a darker trail.

Long-read genomic sequencing can reveal significant patterns of chromosomal structural rearrangement that have previously escaped the more prevalent short-read sequencing employed in cancer genomics, according to current EMBL study published in Cell Genomics.

Researchers from EMBL Heidelberg, the German Cancer Research Center (DKFZ), and EMBL-EBI collaborated to harness long-read sequencing in a manner that might be used in therapeutic situationsLong-read genome sequencing has been the main method used by researchers to investigate the mutational landscapes of cancer. High throughput short-read genome sequencing technology can only produce a large number of short DNA fragments, which researchers then piece together with computational techniques to find mutations in the genome.

Yet, as the researchers expected, this method missed several mutation patterns. They have therefore looked for more effective ways to examine how somatic structural variants (SSVs) affect cell function. Large DNA sections (such as deletions, duplications, etc.) are rearrangements in these SSVs that are known to be connected to the bulk of cancer-causing mutations.

Improved long-read sequencing techniques (such Oxford Nanopore, which was employed in this EMBL study) may make it possible to more accurately detect mutations in cancer genomes.Long-read genome sequencing has been the main method used by researchers to investigate the mutational landscapes of cancer. High throughput short-read genome sequencing technology can only produce a large number of short DNA fragments, which researchers then piece together with computational techniques to find mutations in the genome.

Yet, as the researchers expected, this method missed several mutation patterns. They have therefore looked for more effective ways to examine how somatic structural variants (SSVs) affect cell function. Large DNA sections (such as deletions, duplications, etc.) are rearrangements in these SSVs that are known to be connected to the bulk of cancer-causing mutations.

Improved long-read sequencing techniques (such Oxford Nanopore, which was employed in this EMBL study) may make it possible to more accurately detect mutations in cancer genomes.

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