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Showing posts with label Genomics. Show all posts
Showing posts with label Genomics. Show all posts

Tute Genomics Selected by Affiliated Genetics for Clinical Genome Interpretation

PROVO, Utah, March 28, 2014 /PRNewswire-iReach/ -- Tute Genomics has been selected as the next-generation sequencing (NGS) analytics pipeline for Utah-based Affiliated Genetics, Inc (AGI).  AGI performs a wide variety of diagnostic services, including pharmacogenetic testing, and CLIA-certified sequencing of gene panels and whole exomes for clinicians and researchers.  The Tute Genomics platform allows AGI to rapidly interpret next-generation sequencing data, including automated and customizable clinical reporting.

(Photo: http://photos.prnewswire.com/prnh/20140328/MN92681)

"Partnering with Tute Genomics has enabled us to automate our genome analytics pipeline, making the time from sequencing to interpretable results faster than ever." says Jeff Ward, President of Affiliated Genetics. The secure Tute Genomics platform annotates every genetic variant with public and proprietary data sources and scoring mechanisms. Tute also uses machine-intelligence to assign a summary score to each variant, known as the Tute score, to enable more robust variant and biomarker discovery. Tute has also recently launched a number of features including case-control and family-based analyses, custom gene panel support, and now automated clinical reporting. "A clinical report is generated for every genome and gene panel uploaded to the Tute system for manual review and approval," announced Dr. Kai Wang, President of Tute Genomics. "Ultimately, this provides a human manageable list of prioritized variants on each genome and automates the process of querying a genome for ACMG reportable incidental findings, along with indication-related findings, such as cancer somatic variants and inherited disease mutations."

According to Tute Genomics CEO, Reid Robison, MD MBA, "This pipeline that we've set up with AGI represents a big leap forward towards individualized, genomic medicine. With data streaming directly from their sequencers, we have streamlined the interpretation pipeline, allowing users to visualize and interpret human genomes with just a few clicks."  Tute will be demonstrating clinical reporting and advanced analytics features at the ACMG 2014 Annual Meeting in Nashville, TN on March 27 to 28, 2014 at Booth 532. Please see www.acmgmeeting.net for more details.

About Affiliated Genetics:

Founded in 1994, Affiliated Genetics, Inc. is a privately held corporation providing dozens of medical DNA testing applications, a full range of genomic services, and DNA-based, human identity testing. Located in Salt Lake City, UT, Affiliated Genetics provides DNA testing for numerous federal, state, and local agencies, universities, commercial laboratories, and private clients.   Accredited by CAP, CLIA, and AABB, Affiliated Genetics is frequently the molecular genetics laboratory performing tests for other branded services. Our laboratory provides state-of-the-art testing and outstanding customer service through a highly trained staff of scientists, technicians and customer service representatives.

About Tute Genomics:

Tute Genomics is a cloud-based clinical genome interpretation platform that enables researchers and clinicians to utilize human genetic data for scientific discovery and individualized treatment. Tute is built on the expertise that developed ANNOVAR, the most widely used genome annotation & interpretation technology with over 600 scientific publications. Tute provides robust & scalable genome analysis that incorporates proprietary machine-learning algorithms to assist researchers and clinicians with gene and biomarker discovery. To learn more please visit www.tutegenomics.com.

Media Contact: Mary Brown, Tute Genomics, (858) 779-4363, mary@tutegenomics.com

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SOURCE Tute Genomics

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Tute Genomics seleccionado por genética afiliada para interpretación clínica del genoma

Logo Tute Genomics. (PRNewsFoto/Tute Genomics) jwplayer. key = ' 2k?/GKwZ2uQZmDlQ9VYArfZt2b4 + KhHX3 + DM4zisgtE = ";PROVO, Utah, on March 28, 2014, /PRNewswire-iReach /-Tute Genomics has been selected as the pipeline of new generation (NGS) sequencing Analytics based in Utah Affiliated genetics, Inc (AGI).  AGI carries out a wide range of diagnostic services, including sequencing of the gene panels and whole exome pharmacogenetics and CLIA certification tests for clinicians and researchers.  Tute Genomics platform allows AGI quickly interpret data of next-generation sequencing, including automated and customizable clinical reports.

(Photo: http://photos.prnewswire.com/prnh/20140328/MN92681)

"Partnering with Tute Genomics has allowed us to automate our pipeline of genome analysis, making time of the stream into interpretable results faster than ever.", says Jeff Ward, President of affiliated genetics. Secure Tute Genomics platform scoring each genetic variant scoring mechanisms and sources of public data and property. Tute also uses maquina-inteligencia to assign a rating to each variant, known as the score of Tute, to allow more robust variant and biomarker discovery. Tute has also launched a range of features including analysis of case-control and family, the help of panel-based custom gene and clinical reports now automated. "For each panel of the genome and gene uploaded to the system Tute for manual review and approval, generates a clinical report," announced Dr. Kai Wang, President of genomics Tute. "Ultimately, this provides a human manageable list of prioritized in each genome variants and automates the process of consultation in a genome for ACMG reportable incidental findings, together with the indication, as cancer somatic variants and mutations inherited disease-related outcomes".

According to the CEO of genomic Tute, MBA Reid Robison, MD, "this pipeline that we have configured with AGI represents a great leap forward towards individualized genomic medicine." "With the data directly from their sequencers, we rationalize the pipeline of interpretation, allowing users to visualize and interpret human genomes with just a few clicks."  Tute will manifest clinical reports and analytical features advanced at the annual meeting of the ACMG 2014 in Nashville, TN from 27 to 28 March, 2014 at the stand 532. Please see www.acmgmeeting.net for more details.

Affiliated Genetics:

Founded in 1994, Affiliated Genetics, Inc. is a private corporation providing dozens of medical DNA testing applications, a full range of genomic services and identity based on DNA tests human. Located in Salt Lake City, UT, affiliated genetics provides DNA testing for numerous federal, State and local agencies, universities, commercial laboratories, and private clients.   Accredited by the AABB, CLIA and CAP, affiliated Genetics is often the molecular genetics laboratory testing for other services of brand. Our laboratory provides evidence of State-of-the-art and excellent service the customer through a highly trained staff of scientists, technicians and service representatives customer.

About genomics Tute:

Tute Genomics is a platform for the interpretation of the clinical genome based on the cloud that enables researchers and clinicians to use human genetic data for discovery and individualized treatment. Tute is based on the knowledge that developed ANNOVAR, the most widely used technology annotation & interpretation of the genome with over 600 scientific publications. Tute provides robust & scalable Genomic analysis that incorporates patented machine-learning algorithms to help researchers and clinicians with the discovery of the gene and biomarkers. To learn more, visit www.tutegenomics.com.

Press contact: Mary Brown, Tute Genomics, (858) 779-4363, mary@tutegenomics.com

News distributed by PR Newswire iReach: https://ireach.prnewswire.com

SOURCE Tute Genomics

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Research by Structural Genomics Consortium and DiscoveRx Points to New Multi-Targeting Approaches to Cancer Therapy

DiscoveRx Corporation, Fremont, CA, Contact: Sailaja Kuchibhatla, skuchibhatla@discoverx.com. (PRNewsFoto/DiscoveRx Corporation)jwplayer.key="2kY/GKwZ2uQZmDlQ9VYArfZt2b4+KhHX3+DM4zisgtE=";OXFORD, United Kingdom and FREMONT, Calif., March 5, 2014 /PRNewswire/ -- The Structural Genomics Consortium (SGC) and DiscoveRx Corporation today announced the publication of findings that suggest compelling new multi-targeting approaches for cancer therapy. In a study entitled "Dual kinase-bromodomain inhibitors for rationally designed polypharmacology," which appeared on-line in Nature Chemical Biology (http://www.nature.com/nchembio/index.html), the researchers demonstrate that several clinical kinase inhibitors also potently inhibit diverse bromodomain epigenetic reader proteins.

Kinase inhibitor-based targeted therapies have had clinical successes. However, a substantial proportion of patients fail to respond initially, and acquired resistance to these drugs remains problematic. Inhibition of multiple oncogenic proteins in the same tumor is an established strategy to address these challenges, but the discovery of inhibitors targeting multiple rationally chosen kinases is difficult, and combination therapy approaches require complex clinical investigations.

The finding that several oncology-focused clinical kinase inhibitors also potently inhibit bromodomains, including the established cancer target BRD4, demonstrates the feasibility of a "single agent, inter-family" multi-targeting approach. The structural biology data presented indeed suggest actionable dual inhibitor design strategies. Co-senior author Stefan Knapp, Principal Investigator at the SGC (based at the University of Oxford) commented, "The diversity of the kinase catalytic site and the acetyllysine binding pockets in bromodomains will allow optimization of inhibitor potency for both target classes, which will facilitate the development of therapeutic dual inhibitors."

Among the kinase inhibitors shown to have potent BRD4 activity are the JAK2-FLT3 inhibitor TG-101348 and the PLK1 inhibitors BI-2536 and volasertib. "Since FLT3 and BRD4 can be independent drivers in acute myelogenous leukemia, the TG-101348 data raise hope for the development of an optimized dual FLT3-BRD4 inhibitor, which would be anticipated to improve patient outcomes," said co-senior author Daniel Treiber, Sr. Director of Research at DiscoveRx.

Co-author Neil Shah, Leader of the Hematopoietic Malignancies Program at the UCSF Helen Diller Family Comprehensive Cancer Center, agrees that multi-targeting single agent therapies could offer significant advantages. "Attempts to clinically test therapeutic combination strategies that exploit synergistic interactions are often hampered by significant obstacles such as the potentially unacceptable cost and toxicity of combining two drugs, as well as practical difficulties inherent in working simultaneously with two pharmaceutical companies," he said. "This work excitingly demonstrates that in some cases, rational medicinal chemistry efforts can circumvent many of these issues and potentially rapidly advance medical science."

Importantly, the dual BRD4-kinase inhibitors were also shown to exhibit complex, unique polypharmacologies across a panel of human primary cell disease models (BioMAP® systems). "Our strategy of using both target-based and phenotypic screening approaches represents a paradigm shift in developing single agents that can act as ready-made combination therapies that may be more efficacious and overcome clinical obstacles," said co-first author Alison O'Mahony, Sr., Director of Research at BioSeek, a division of DiscoveRx.

About the Structural Genomics Consortium
The Structural Genomics Consortium (SGC) (http://www.thesgc.org/) is a not-for-profit, public-private partnership that conducts pre-competitive research to facilitate the discovery of new medicines.  Based at the University of Oxford and University of Toronto the SGC's work contributes to new hypotheses in understanding and treating human disease, and the subsequent identification of new targets for drug discovery. The SGC's primary objectives are to produce and characterize the 3-dimensional structures of soluble proteins and of integral membrane proteins, to generate selective chemical probes for epigenetic proteins and kinases, and to release these into the public domain. As part of its mission the SGC generates medically relevant reagents and knowledge related to human proteins and proteins from human parasites, which it shares through over 250 collaborations with researchers worldwide. Since 2004 the SGC has solved over 1400 protein structures and has generated 19 chemical probes for epigenetic proteins (http://www.thesgc.org/chemical-probes/epigenetics).

About DiscoveRx Corporation
Founded in 2000, DiscoveRx is a leading provider of next generation drug discovery screening and profiling platforms. Utilizing its three proprietary technology platforms beta-galactosidase-based enzyme fragment complementation (EFC), KINOMEscan® and BioMAP® (http://www.biomapsystems.com), DiscoveRx offers an industry leading portfolio of over 1000 target-based and human primary cell-based systems for oncology, metabolic disease, inflammation, autoimmunity, CNS and cardiovascular research at global pharmaceutical, biotechnology and academic institutes.  For more information, visit http://www.discoverx.com.

University of California Disclaimer
The information stated above was prepared by the Structural Genomics Consortium (SGC) and DiscoveRx Corp. and reflects solely that opinion. Nothing in this statement shall be construed to imply any support or endorsement of the SGC or DiscoveRx, or any of its products, by The Regents of the University of California, its officers, agents and employees.

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SOURCE DiscoveRx Corporation

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UC Davis Purchases Irys System From BioNano Genomics To Advance Genome Mapping And Assembly Of Wheat Relative

SAN DIEGO, Jan. 13, 2014 /PRNewswire/ -- BioNano Genomics announced today the purchase of an Irys™ System by UC Davis to assist, among other projects, in completing the genome assembly of Aegilops tauschii, one of three progenitors of today's bread wheat. The team of researchers at UC Davis, led by Dr. Jan Dvorak, will use the Irys System in their workflow as they determine the sequence, location, and orientation of all genes and transposable elements of the A. tauschii genome.  This information will be used to advance the assembly and analysis of the wheat genome sequence, which is known to be five times larger and significantly more complex than the human genome.

"Among the world's essential crops for human and animal food, the wheat genome has yet to be fully realized because of its complexity," said Erik Holmlin, president and CEO of BioNano Genomics. "The UC Davis team's research with A. tauschii will help determine how wheat genome is organized and contribute to the large international effort to decode the genome of one of the world's most important food crops."

"To date, very few high-quality assemblies are available for large and complex genomes, like wheat, because we have inaccurate, low-resolution physical maps on which to arrange DNA sequence information," stated Han Cao, Ph.D., founder and chief scientific officer of BioNano Genomics. "The Irys System provides a high-resolution genome map upon which DNA sequences can quickly and accurately be organized."

Ancestor Gives Clues to Today's Wheat

Bread wheat (Triticum aestivum L.) is a hexaploid species containing three different ancestral genomes (designated A, B, and D), each of which has seven pairs of chromosomes. In addition, approximately 90 percent of the wheat genome is made up of repetitive stretches of DNA, making the assembly of an accurate and complete genome map and genome sequence extremely difficult. As the progenitor to wheat's D genome, A. tauschii is a wild grass that spontaneously hybridized with cultivated tetraploid wheat 8,000 years ago, producing what we know today as bread wheat.

"In order to complete the sequence of a large genome, like that of wheat, we need to know how all the genes are organized within each chromosome and the length and location of the many long areas of repeats," said Ming-Cheng Luo, Ph.D., research geneticist in the Department of Plant Sciences at UC Davis and co-PI on the A. tauschii sequencing project. "Despite advances in high-throughput sequencing, accurate de novo assembly of a genome has previously been the weak link in genomics research."  

To assemble a genome de novo (from scratch), scientists must determine how the small lengths of DNA sequences generated from short-read next generation sequencing (NGS) methods are organized in the whole genome. BioNano's Irys System is a genome mapping technology that fills a void in de novo assemblies by providing a high-resolution physical genome map to anchor and organize DNA sequence information to dramatically improve the fidelity of the final genome assembly. 

"Last year, we worked with BioNano to generate Irys data that allowed us to quickly create and publish a high-resolution genome map of a particularly complex region of Aegilops tauschii genome," said Dr. Luo. "Based on the success of that collaboration, we have decided to acquire our own Irys system, and we will build upon that research to create an accurate draft of the entire D genome sequence. Once completed, the high-quality draft of A. tauschii D genome can be used by the global research community to predict gene locations and accelerate genome sequencing and assembly of wheat and its relatives."

New Technologies Are Reducing the Costs of Genome Research

Assembling a genome to completion has previously been an intractable problem because researchers have not been able to easily visualize repetitive elements and structural variations. All genomes contain structural variations, which include large sections of repeats, deletions, duplications, insertions, inversions, translocations, and copy-number variants.  

BioNano's Irys System is an automated, long-read technology that allows for precise and accurate visualization of the underlying organization and structural variation of extended stretches of DNA.

"NGS methods, where the DNA is cut into smaller pieces to be sequenced, loses structural information making genome assembly an inaccurate, labor-intensive and costly task," said Dr. Luo. "With BioNano's Irys System, we can actually retain the long-range contiguity of the DNA, which allows us to accurately assemble and finish genomes as well as compare the structural variations that exist among different genomes to learn how an organism has genetically adapted to changing environments."

Dr. Cao added, "The hidden costs in sequencing are assembly, analysis, and annotation of the genome.  Rapid and accurate de novo map assembly with BioNano's technology makes sequencing projects less expensive by streamlining the process and providing a genome map with unprecedented quality and accurate structural variation information.  Our technology actually reduces backend analysis costs so that researchers can expand the number of genomes that can be studied, thus supporting more comprehensive surveys and comparisons among genomes."

Safeguarding Wheat's Future

The United Nations has said that harvest yield of wheat will need to increase by 60 percent by 2050 to meet the dietary needs for our expected population growth. However, wheat output has recently plateaued causing alarm in the wheat research and production community. A more complete genomic map of wheat and ultimately genome sequence could provide important information on how wheat adapts to drought, disease, and temperature changes.

Dr. Luo concluded, "With our recent grant from the National Science Foundation and the integration of the Irys System and the new high-throughput V2 chips into our workflow, we will be able to quickly complete a high-quality draft of the A. tauschii genome. By decoding the sequences of all genes and determining their locations and orientations relative to each other, wheat geneticists will be able to identify changes in the wheat genome that are responsible for the high productivity of modern cultivars. This knowledge and more efficient breeding techniques based on an accurate wheat genome sequence will accelerate breeding of new, more productive varieties."

To learn more: BioNano Genomics will be hosting a workshop at the upcoming International Plant and Animal Genomes Conference held in San Diego on Tuesday, January 14, at 1:30PM. Presentations will include results generated with the Irys System on wheat and other crop plants.

About Irys

Irys makes it possible to routinely and accurately detect genomic structural variation and to finish genome assemblies. The fully automated Irys benchtop instrument uses the IrysChip to uncoil and confine long DNA molecules in proprietary Nanochannel Arrays™ where they are uniformly linearized in a highly parallel display for high-resolution, single-molecule imaging. Irys does not employ DNA fragmentation or amplification, which are typical with next-generation sequencing. The result is sequence information over extremely long "reads" ranging from hundreds of kilobases to a megabase, where the sample's valuable structural information is preserved. Irys makes it possible for researchers to directly observe structural variants including replications, deletions, translocations and inversions.

About BioNano Genomics

Headquartered in San Diego, BioNano Genomics is delivering an altogether better way of gaining a fully informed understanding of genomes. The Company's platform provides researchers and clinicians the most comprehensive, organized and actionable picture of a genome with unprecedented insights into how the individual components of genomes are ordered, arranged, and interact with each other. BioNano Genomics works with institutions in life science, translational research, molecular diagnostics and personalized medicine. The Company is supported by private investors and grant funding from genomics programs at federal agencies, including the NIH and NIST-ATP.

www.BioNanoGenomics.com

Notes: BioNano Genomics is a trademark of BioNano Genomics, Inc. Any other names of actual companies, organizations, entities, products or services may be the trademarks of their respective owners.

SOURCE BioNano Genomics

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BioNano Genomics To Present At Upcoming J.P. Morgan Healthcare Conference

SAN DIEGO, Jan. 10, 2014 /PRNewswire/ -- BioNano Genomics announced today that Erik Holmlin, Ph.D., BioNano's president and CEO, will present at the 32nd Annual J.P. Morgan Healthcare Conference in San Francisco on Thursday, January 16th at 12:00 p.m. PST. 

About BioNano Genomics

Headquartered in San Diego, BioNano Genomics is delivering an altogether better way of gaining a fully informed understanding of genomes. The Company's platform, the Irys® System, provides researchers and clinicians the most comprehensive, organized and actionable picture of a genome with unprecedented insights into how the individual components of genomes are ordered, arranged, and interact with each other. BioNano Genomics works with institutions in life science, translational research, molecular diagnostics and personalized medicine. The Company is supported by private investors and grant funding from genomics programs at federal agencies, including the NIH and NIST-ATP.

www.BioNanoGenomics.com

Notes: BioNano Genomics is a trademark of BioNano Genomics, Inc. Any other names of actual companies, organizations, entities, products or services may be the trademarks of their respective owners.

SOURCE BioNano Genomics

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http://www.BioNanoGenomics.com

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