Natural Sciences
Life Sciences
Scientific Computing
Life Science

Dr. Georg Papoutsoglou, Bionano Genomics

DKFZ, TP3, Buchleither Seminar Room, Im Neuenheimer Feld 580

GPCF TechTalk Series

The majority of the human genome is made up of repetitive and regulatory elements. Short read sequencing or exome sequence strategies, while very powerful, are unable to map these highly repetitive sequences. As a result, structural variants flanked by repeats can go undetected, and critical information about the genome may be missed when analysis relies on NGS technologies alone. Cancer cells typically show a large number of major rearrangements of the genome, and their presence or absence can affect the characteristics of the tumor and its response to treatment and, therefore, direct clinical care. Bionano Genomics’ platform for whole genome mapping allows for extremely long read data, resulting in unmatched sensitivity to detect large structural variation. Our de novo maps can resolve complex repetitive regions, identify Copy Number Variations, and elucidate genome-wide large structural variation like balanced/unbalanced translocations, inversions, and large indels with much higher sensitivity and precision than sequencing based methods. Examples will be presented of how Bionano’s platform is helping provide a molecular diagnosis for patients with undiagnosed genetic disorders and how it has been applied to discover large, potentially oncogenic, genomic rearrangements in prostate cancer and leukemia that were missed by NGS alone.

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