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BioNano Genomics lanza Irys en Europa en ESHG 2013


News provided by

BioNano Genomics

Jun 07, 2013, 04:02 ET

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-- La investigación describirá la primera demostración de De Novo Assembly of the Human Genome Using Irys System

SAN DIEGO y PARÍS, 7 de junio de 2013 /PRNewswire/ -- BioNano Genomics ha anunciado hoy la disponibilidad en la Unión Europa del sistema Irys™ para mapeo del genoma. En combinación con la Conferencia Europea de Genética Humana 2013 celebrada en París del 8 al 11, BioNano y el colaborador Pui-Yan Kwok, M.D., Ph.D., Henry Bachrach,  profesor distinguido de la Universidad de California, San Francisco (UCSF), presentarán la primera demostración de un mapa de novo del genoma humano que utiliza el sistema Irys y la utilidad de este mapa en el análisis de la variación estructural y acabado del genoma. 

"Estamos encantados de expandir el mercado global para Irys, de modo que los laboratorios de vanguardia en Europa y más allá pueden acceder al poder de las tecnologías de lectura para impulsar los descubrimientos genómicos", dijo Erik Holmlin, Ph.D., director general y consejero delegado de BioNano Genomics. "Los mapas físicos de De novo están demostrando ser cruciales para la total caracterización de los genomas. Estamos animados a demostrar hoy que la plataforma de Irys puede escalarse a genomas más grandes y complejos, como el humano. Este logro abre el camino para el lanzamiento de capacidades del genoma humano, que incluirán un nuevo IrysChip de alto rendimiento, que se anunciará en la segunda mitad de este año".

El doctor Holmlin continuó: "Con la tecnología de colección de nanocanal de Irys System, podemos ofrecer la información genómica de largo alcance que necesitan los investigadores y médicos de genómica para la detección precisa de variación estructural genómica y para completar los ensamblajes de genoma. Irys tiene importantes aplicaciones a través de la genómica humana y la epigenómica y será especialmente útil en la investigación de enfermedades biomédicas y finalmente ofrecer diagnósticos".

BioNano Genomics estará en el expositor 692 en la Conferencia Europea de Genética Humana 2013 presentada por la Sociedad Europea de Genética Humana (ESHG). Además, el doctor Kwok dará una presentación de podio en la conferencia. 

Detalles de la presentación: 

Título:

C01.4 - Mapping of two human genomes with a single molecule nanochannel array platform for genome-wide structural variation analysis and de novo sequence assembly

Sesión: 

C01. Structural variation and de novo mutations.

Fecha/Hora: 

6/9/2013 1:15 PM - 2:45 PM

Sala:

Grand Amphitheatre

Acerca de Irys

Irys hace posible detectar de manera rutinaria y precisa la variación estructural genómica y terminar los ensamblajes del genoma. El instrumento de referencia de Irys totalmente automatizado utiliza el IrysChip para desenroscar y confinar grandes moléculas de ADN en Nanochannel Arrays™ patentados donde están uniformemente alineados en una muestra altamente paralela para la imagen de una sola molécula y alta resolución. Irys no emplea fragmentación y amplificación de ADN, que son típicas de la secuenciación de próxima generación. El resultado es información de secuencia en "lecturas" extremadamente largas que van de cientos de kilobases a una megabase, donde se conserva la información estructural valiosa de la muestra. Irys posibilita a los investigadores observar directamente las variantes estructurales que incluyen réplicas, eliminaciones, translocalizaciones e inversiones. 

Acerca de BioNano Genomics

Con sede en San Diego, BioNano Genomics ofrece una mejor manera de obtener un conocimiento totalmente informado de documentos de los genomas. La plataforma de la Compañía ofrece a los investigadores y médicos la imagen más completa, organizada y accionable de un genoma con visiones sin precedentes de cómo los componentes individuales de los genomas se ordenan, disponen e interactúan entre sí. BioNano Genomics funciona con instituciones en ciencias de la vida, investigación translacional, diagnóstico molecular y medicina personalizada. La compañía está respaldada por inversores privados y financiación de programas de genómica en agencias federales, incluyendo la NIH y NIST-ATP.

www.BioNanoGenomics.com 

Notas: BioNano Genomics es una marca comercial de BioNano Genomics, Inc. El resto de nombres de compañías, organizaciones, entidades, productos o servicios pueden ser marcas comerciales de sus respectivos dueños. 

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