Montpellier Omics Club

Afin de se tenir informé des dernières technologies de séquençage et partager nos retours sur ces technologies, nous vous proposons de venir participer aux Montpellier Omics Club. Organisés en partenariat entre l'ISEM, l'IBC et le LIRMM, ces séminaires sont ouverts à toutes les personnes travaillant de près ou de loin sur le traitement et l'analyse de données NGS. Nous vous proposons quatre réunions par an. Les informations concernant les manifestations et formations en lien avec les NGS seront également partagées. Donc n'hésitez pas à nous proposer des orateurs ou des manifestations autour des NGS.

En Mars : Présentation de Bionano

Lundi 27 mars, 9h30, Salle Louis Thaler - ISEM Bat22 1er étage.

Sven Bocklandt, Ph.D.Sr. Application Specialist

Bionano Next-Generation genome mapping: illuminating the inaccessible genome via detection of large, complex structural variants in human studies

Sven Bocklandt, PhD - Sr. Application Specialist at Bionano Genomics®The majority of many complex genomes 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, critical information about the genome may be missed when analysis relies on NGS technologies alone.

Bionano Genomics’ platform for whole genome mapping allows for extremely long read data, resulting in unmatched sensitivity and specificity 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.

Specific examples will be presented of how Bionano’s platform is helping provide a molecular diagnosis for patients with Duchenne Muscular Dystrophy, identify potential causative variants for patients with undiagnosed genetic disorders, and how it has been applied to discover large, potentially oncogenic, genomic rearrangements in Prostate Cancer that were missed by NGS alone.

Our de novo maps can also be used to scaffold NGS contigs to create better-than-reference assemblies.

 

 

Institut des Sciences de l'Evolution de Montpellier

Laboratoire d'Informatique, Robotique et Microélectronique de Montpellier

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