Coriell Institute for Medical Research

Camden, NJ, United States

Coriell Institute for Medical Research

Camden, NJ, United States

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„Die Kosten haben Panels mit einer großen Zahl an Amplifikationsprodukten bislang immer eingeschränkt. Für Forscher, die häufiger den Gehalt der Gene verändern müssen, ist der niedrigere Preis für Oligonukleotide wirklich großartig", sagte Pan Zhang, Ph.D., M.D., Direktor des Sequencing and Microarray Center am Coriell Institute for Medical Research. Thermo Fisher wird Vorführungen der neuen Ion AmpliSeq Designer-Software für Konferenzteilnehmer, die dies auf der ESHG 2017 wünschen, anbieten. Das Unternehmen wird zudem einen Workshop veranstalten, bei dem Vorträge von Anwendern der Ion AmpliSeq On-Demand-Panels und weiteren neuen Technologien von Thermo Fisher angeboten werden, die von Anfang an dabei waren. Der ergänzende Workshop, der unter der Überschrift New Products to Enable Discovery of De Novo and Germline Mutations läuft, wird am Sonntag, den 28. Mai um 11.15 Uhr (CET) im Ballerup Room im Bella Center Copenhagen (BCC) stattfinden. Zu den Vortragenden auf dem Workshop gehören:


"Il costo era un fattore limitante per i pannelli composti da un gran numero di ampliconi. Per i ricercatori che necessitano di modificare il contenuto genetico di frequente, un prezzo inferiore per gli oligo rappresenta un elemento davvero importante", ha detto Pan Zhang, medico e dottore, direttore presso il Sequencing and Microarray Center (Centro di sequenziamento e micromatrice) del Coriell Institute for Medical Research (Istituto Corriell per la ricerca medica). Adam Ameur, dottore e scienziato bioinformatico per la National Genomics Infrastructure (Infrastruttura genomica nazionale) dello SciLifeLab dell'Università di Uppsala, ha aggiunto: "La maggioranza dei progetti per cui offriamo assistenza posseggono pochi campioni, quindi è bene disporre di un piccolo pacchetto. In precedenza, siamo stati limitati dai costi, quindi ciò potrebbe aprire la strada ad altri studi in cui osservare i geni più grandi con meno campioni." I pannelli su richiesta Ion AmpliSeq On-Demand Panels sono personalizzati dai clienti sulla base dello strumento di progettazione Ion AmpliSeq Designer (www.ampliseq.com) selezionando da un crescente archivio composto da geni bersaglio altamente ottimizzati importanti per la ricerca sulle malattie genetiche. Il database per le malattie genetiche dello strumento, che consente la selezione dei geni in funzione dell'area di ricerca delle malattie, è composto da dati ricevuti da archivi pubblici, quale il database del Medical Subject Headings (MeSH/Termini medici), e include set di primer basati sulle migliaia di progetti sperimentati che sono anche stati verificati in wet lab (laboratorio umido) per garantirne la resa. I pannelli sono quindi ordinati istantaneamente in pratici pacchetti appositi per le esigenze sperimentali e ridurre i costi iniziali. "Il sequenziamento mirato ricorrendo a pannelli personalizzati in base al tipo di cliente ha dimostrato di essere una metodologia popolare a guida della ricerca traslazionale, ma per malattie non comuni e complesse quali quelle genetiche la maggioranza dei laboratori non hanno un numero di campioni tali da giustificare un investimento importante a livello temporale ed economico", ha detto Joydeep Goswami, presidente del Clinical Next-Generation Sequencing and Oncology (Oncologia e NGS clinici) presso Thermo Fisher Scientific. "Semplificando la modalità di personalizzazione per gli utenti quanto a contenuto e pacchetto, i ricercatori clinici possono concentrarsi sui geni bersaglio interessati che orienteranno scoperte maggiori senza elevati costi iniziali e il rischio di sprechi." Thermo Fisher illustrerà il nuovo software progettuale Ion AmpliSeq Designer Software ai delegati che lo richiederanno presso l'ESHG 2017. La società ospiterà anche un workshop con colloqui di utenti nell'accesso iniziale dei pannelli su richiesta Ion AmpliSeq On-Demand Panels e altre nuove tecnologie di Thermo Fisher. Il workshop complementare, intitolato New Products to Enable Discovery of De Novo and Germline Mutations (Nuovi prodotti per la scoperta di mutazioni genetiche e de novo), avrà luogo domenica 28 maggio alle ore 11:15 CET nella sala Ballerup Room presso il Bella Center Copenhagen (BCC). Tra i presentatori del workshop ci saranno: Informazioni su Thermo Fisher Scientific Thermo Fisher Scientific Inc. è leader mondiale al servizio della scienza, con un fatturato pari a 18 miliardi di dollari e oltre 55.000 dipendenti nel mondo. La nostra missione risiede nel consentire ai nostri clienti di rendere il mondo più salubre, pulito e sicuro. Aiutiamo i nostri clienti ad accelerare la ricerca nelle scienze naturali, risolvere problematiche analitiche complesse, migliorare le diagnosi per i pazienti e aumentare la produttività dei laboratori. Tramite i nostri marchi principali – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific e Unity Lab Services – offriamo una combinazione ineguagliabile di tecnologie innovative, convenienza nell'acquisto e assistenza completa. Per ulteriori informazioni visitare il sito web www.thermofisher.com.


"Cost was a limiting factor for panels with a large number of amplicons. For researchers that need to change their gene content frequently, the lower price for oligos is really great," said Pan Zhang, Ph.D., M.D., director, Sequencing and Microarray Center at Coriell Institute for Medical Research. Adam Ameur, Ph.D., Bioinformatics Scientist, National Genomics Infrastructure, SciLifeLab at Uppsala University, added: "The majority of the projects we provide service for have only a few samples, so it is good to have a small pack size. Previously, we have been limited because of the cost, so this may open up other studies in which we look at larger genes with fewer samples." Ion AmpliSeq On-Demand Panels are custom designed by customers on the Ion AmpliSeq Designer tool (www.ampliseq.com) by selecting from a growing repository of highly optimized gene targets that are relevant in germline disorder research. The tool's disease-gene database, which allows gene selection based on disease research area, has been informed by public repositories, such as the Medical Subject Headings (MeSH) database, and includes primer sets based on 1,000's of proven designs that are also wet lab verified to guarantee performance. Panels are then ordered instantaneously in practical pack sizes that fit experiment needs and lower upfront costs. "Targeted sequencing using customer-designed custom panels has proven to be a popular method for driving translational research, but for uncommon, complex diseases such as germline disorders, most labs do not have the number of samples to justify the significant investment of time and money," said Joydeep Goswami, president of Clinical Next-Generation Sequencing and Oncology at Thermo Fisher Scientific. "By simplifying the way users can customize their content and pack delivery size, clinical researchers can focus on targets of interest that will drive greater discovery without the high upfront cost and risk of waste." Thermo Fisher will provide demonstrations of the new Ion AmpliSeq Designer Software for delegates who request them at ESHG 2017.  The company is also hosting a workshop featuring talks from early access users of Ion AmpliSeq On-Demand Panels and other new technology from Thermo Fisher. The complementary workshop, titled New Products to Enable Discovery of De Novo and Germline Mutations, will take place Sunday, May 28 at 11:15 am CET in the Ballerup Room at the Bella Center Copenhagen (BCC). Workshop presenters include: Additional Ion Torrent NGS products to be highlighted at ESHG 2017 include: For more information on the Ion AmpliSeq On-Demand Panels, stop by Thermo Fisher's booth (#438) or visit www.thermofisher.com/ampliseqondemand.html. For more information on the workshop at ESHG, visit www.thermofisher.com/eshg17. Ion AmpliSeq On-Demand Panels, Ion ReproSeq PGS Kits and Ion 510 Chip are For Research Use Only; not for use in diagnostic procedures. About Thermo Fisher Scientific Thermo Fisher Scientific Inc. is the world leader in serving science, with revenues of $18 billion and more than 55,000 employees globally. Our mission is to enable our customers to make the world healthier, cleaner and safer. We help our customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics and increase laboratory productivity. Through our premier brands – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific and Unity Lab Services – we offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive support. For more information, please visit www.thermofisher.com. To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/new-on-demand-targeted-next-generation-sequencing-panels-for-inherited-disease-research-deliver-user-customization-without-high-upfront-cost-300461447.html


Une approche de NGS ciblé est la méthode préférée pour les chercheurs qui étudient les troubles de la lignée germinale dans un effort de comprendre les maladies complexes qui requièrent une analyse de plusieurs gènes. Par rapport au séquençage lent et coûteux de l'exome entier ou du génome entier, le NGS ciblé est devenu une approche particulièrement bénéfique dans les milieux de la recherche clinique où il faut souvent un moyen plus pratique, plus efficace et plus économique de reséquencer des dizaines à des centaines de cibles génétiques spécifiques. « Le coût est un facteur limitant pour les panneaux avec un grand nombre d'amplicons. Pour les chercheurs qui ont besoin de changer leur contenu génique fréquemment, le prix plus bas pour les oligos est vraiment génial », a déclaré Pan Zhang, Ph.D., M.D., directeur, Centre de séquençage et de microréseau chez Coriell Institute for Medical Research. « Le séquençage ciblé à l'aide de panneaux conçus sur mesure par le client s'est avéré être une méthode populaire pour la conduite de la recherche translationnelle, mais pour les maladies rares et complexes, telles que les troubles de la lignée germinale, la plupart des laboratoires n'ont pas le nombre d'échantillons pour justifier l'investissement important de temps et d'argent », a déclaré Joydeep Goswami, président du séquençage de nouvelle génération et de l'oncologie clinique chez Thermo Fisher Scientific. « En simplifiant la manière dont les utilisateurs peuvent personnaliser leur contenu et taille de livraison contenance, les cliniciens-chercheurs peuvent se concentrer sur des cibles d'intérêt qui conduiront à une plus grande découverte sans le coût initial élevé et le risque de pertes ». Thermo Fisher offrira des démonstrations du nouveau logiciel Ion AmpliSeq Designer pour les délégués qui en font la demande à l'ESHG 2017.  La société organise également un atelier qui figure des entretiens auprès des utilisateurs qui ont bénéficiés d'un accès en avant-première aux Ion AmpliSeq On-Demand Panels et autres technologies nouvelles de Thermo Fisher. L'atelier complémentaire, intitulé New Products to Enable Discovery of De Novo and Germline Mutations (Nouveaux produits afin de permettre la découverte des mutations De Novo et de la lignée germinale), aura lieu le dimanche 28 mai à 11h15 (HEC) dans la salle Ballerup au Bella Center Copenhague (BCC). Parmi les animateurs de l'atelier, on compte : À propos de Thermo Fisher Scientific Thermo Fisher Scientific Inc. est le leader mondial qui sert la science, avec un chiffre d'affaires de 18 milliards de dollars et plus de 55 000 employés à travers le monde. Notre mission consiste à permettre à nos clients de rendre le monde plus sain, plus propre et plus sûr. Nous aidons nos clients à accélérer la recherche dans les sciences de la vie, à relever des défis analytiques complexes, à améliorer les diagnostics des patients et à accroître la productivité des laboratoires. Par le biais de nos grandes marques – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific et Unity Lab Services – nous offrons une combinaison inégalée de technologies innovantes, de facilité d'achat et de soutien complet. Pour de plus amples informations, rendez-vous sur www.thermofisher.com.


A targeted NGS approach is the preferred method for researchers who study germline disorders in an effort to understand complex diseases that require analysis of multiple genes. Compared to the time-consuming and costly whole exome or whole genome sequencing, targeted NGS has become an especially beneficial approach in clinical research settings where a more practical, efficient and economical way to resequence tens-to-hundreds of specific gene targets is often required. "Cost was a limiting factor for panels with a large number of amplicons. For researchers that need to change their gene content frequently, the lower price for oligos is really great," said Pan Zhang, Ph.D., M.D., director, Sequencing and Microarray Center at Coriell Institute for Medical Research. Adam Ameur, Ph.D., Bioinformatics Scientist, National Genomics Infrastructure, SciLifeLab at Uppsala University, added: "The majority of the projects we provide service for have only a few samples, so it is good to have a small pack size. Previously, we have been limited because of the cost, so this may open up other studies in which we look at larger genes with fewer samples." Ion AmpliSeq On-Demand Panels are custom designed by customers on the Ion AmpliSeq Designer tool (www.ampliseq.com) by selecting from a growing repository of highly optimized gene targets that are relevant in germline disorder research. The tool's disease-gene database, which allows gene selection based on disease research area, has been informed by public repositories, such as the Medical Subject Headings (MeSH) database, and includes primer sets based on 1,000's of proven designs that are also wet lab verified to guarantee performance. Panels are then ordered instantaneously in practical pack sizes that fit experiment needs and lower upfront costs. "Targeted sequencing using customer-designed custom panels has proven to be a popular method for driving translational research, but for uncommon, complex diseases such as germline disorders, most labs do not have the number of samples to justify the significant investment of time and money," said Joydeep Goswami, president of Clinical Next-Generation Sequencing and Oncology at Thermo Fisher Scientific. "By simplifying the way users can customize their content and pack delivery size, clinical researchers can focus on targets of interest that will drive greater discovery without the high upfront cost and risk of waste." Thermo Fisher will provide demonstrations of the new Ion AmpliSeq Designer Software for delegates who request them at ESHG 2017.  The company is also hosting a workshop featuring talks from early access users of Ion AmpliSeq On-Demand Panels and other new technology from Thermo Fisher. The complementary workshop, titled New Products to Enable Discovery of De Novo and Germline Mutations, will take place Sunday, May 28 at 11:15 am CET in the Ballerup Room at the Bella Center Copenhagen (BCC). Workshop presenters include: Additional Ion Torrent NGS products to be highlighted at ESHG 2017 include: For more information on the Ion AmpliSeq On-Demand Panels, stop by Thermo Fisher's booth (#438) or visit www.thermofisher.com/ampliseqondemand.html. For more information on the workshop at ESHG, visit www.thermofisher.com/eshg17. Ion AmpliSeq On-Demand Panels, Ion ReproSeq PGS Kits and Ion 510 Chip are For Research Use Only; not for use in diagnostic procedures. About Thermo Fisher Scientific Thermo Fisher Scientific Inc. is the world leader in serving science, with revenues of $18 billion and more than 55,000 employees globally. Our mission is to enable our customers to make the world healthier, cleaner and safer. We help our customers accelerate life sciences research, solve complex analytical challenges, improve patient diagnostics and increase laboratory productivity. Through our premier brands – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific and Unity Lab Services – we offer an unmatched combination of innovative technologies, purchasing convenience and comprehensive support. For more information, please visit www.thermofisher.com.


News Article | November 30, 2016
Site: www.eurekalert.org

First five cell lines in Allen Cell Collection empower the cell science community to explore the dynamic organization of the cell and to better understand health and disease The Allen Institute for Cell Science has released the Allen Cell Collection: the first publicly available collection of gene edited, fluorescently tagged human induced pluripotent stem cells that target key cellular structures with unprecedented clarity. Distributed through the Coriell Institute for Medical Research, these powerful tools are a crucial first step toward visualizing the dynamic organization of cells to better understand what makes human cells healthy and what goes wrong in disease. "Each of our cells -- the fundamental units of life -- are like a city, with people and resources that move around and factories that generate those resources and carry out important functions," says Rick Horwitz, Ph.D., Executive Director of the Allen Institute for Cell Science. "With these cell lines, we aim to give the cell science community a kind of live traffic map to see when and where the parts of the cell are with the clarity and consistency they need to make progress toward understanding human health and tackling disease." Scientists at the Allen Institute for Cell Science used CRISPR/Cas9 technology to insert fluorescent tags for major cellular structures into human induced pluripotent stem cells. Unlike typical methods which flood the cell with fluorescent protein, these highly precise tags show exactly when and where the structures are at various stages in the cell's lifecycle. "By lowering the barrier to entry for cell biologists wishing to work on iPS cells, the availability of these lines will usher in a new era in cell biology," says Anthony Hyman, Ph.D., Director and Group Leader at the Max Planck Institute of Molecular Cell Biology and Genetics. This first collection of five cell lines targets a set of major cellular structures that help to orient the cell. These include the nucleus (tagged by the protein lamin B1), mitochondria (Tom20), microtubules (alpha-tubulin), cell-to-cell junctions (desmoplakin) and adhesion (paxillin). Subsequent collections will be released throughout 2017. "This kind of precise fluorescent tagging of structures in human stem cells is valuable for a variety of reasons, not least of which is that the pluripotent stem cells can be turned into a large number of cell types, like heart, brain or skin," says Ruwanthi Gunawardane, Ph.D., Director of Stem Cells and Gene Editing at the Allen Institute for Cell Science. "Our cells are healthy and as close to normal human cells as we can study in the lab, making these cell lines a powerful platform to identify the functions of genes, screen drugs, determine differentiation state and much more." "With these tagged cell lines, we get to 'spy' on the organization of healthy, normal human cells in a way that scientists never could before," says Susanne Rafelski, Ph.D., Director of Assay Development at the Allen Institute for Cell Science. "The images and movies we can generate from these lines show the cell's major structures with astonishing clarity and empower a broad, multi-structure view of how cells change as they execute their various activities and turn into different kinds of cells." The cell lines will be available for scientists around the world to use not just to understand the fundamentals of the cell, but also to investigate disease. Key mutations can be introduced to the cells in order to study how disease progresses in a dish, with broad potential impacts on the fields of biomedical science and personalized medicine. For more information about the Allen Cell Collection at the Coriell Institute for Medical Research, visit catalog.coriell.org/AllenCellCollection. About the Allen Institute for Cell Science The Allen Institute for Cell Science is a division of the Allen Institute (alleninstitute.org), an independent, 501(c)(3) nonprofit medical research organization, and is a research organization dedicated to understanding and modeling cells: the fundamental units of life. By integrating technologies, approaches, models and data into a common standardized framework, the Allen Institute for Cell Science is creating dynamic, visual models of how genetic information is transformed into cellular behavior, and how the molecules and organelles within each cell interact and function as systems. These predictive models will enable the cell science community to better understand the role of cells in both health and disease. The Allen Institute for Cell Science was launched in 2014 with a contribution from founder and philanthropist Paul G. Allen. The data, tools and models from the Allen Institute for Cell Science will be publicly available online. About the Coriell Institute for Medical Research Coriell Institute for Medical Research is recognized as one of the world's leading biobanks, distributing biological samples and offering research and biobanking services to scientists around the globe. A pioneer in genomics, Coriell is examining the utility of genetic information in clinical care through the Coriell Personalized Medicine Collaborative (CPMC) research study. The Institute is also unlocking the promise of induced pluripotent stem cells and their role in disease research and drug discovery.


Scheinfeldt L.B.,University of Pennsylvania | Scheinfeldt L.B.,Coriell Institute for Medical Research | Tishkoff S.A.,University of Pennsylvania
Nature Reviews Genetics | Year: 2013

The recent availability of genomic data has spurred many genome-wide studies of human adaptation in different populations worldwide. Such studies have provided insights into novel candidate genes and pathways that are putatively involved in adaptation to different environments, diets and disease prevalence. However, much work is needed to translate these results into candidate adaptive variants that are biologically interpretable. In this Review, we discuss methods that may help to identify true biological signals of selection and studies that incorporate complementary phenotypic and functional data. We conclude with recommendations for future studies that focus on opportunities to use integrative genomics methodologies in human adaptation studies. © 2013 Macmillan Publishers Limited. All rights reserved.

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