This year at the American Society for Human Genetics (ASHG) 2023 Annual Meeting, QIAGEN will be showcasing our Sample to Insight solutions for human genetics at booth #902. Learn more about our products and solutions and receive complimentary demos of our bioinformatic software and databases. Our experts will be available to chat with you and answer any questions you may have. We look forward to seeing you at ASHG 2023.

Sample to Insight

We’re just days away from heading to the annual meeting of the American Society of Human Genetics (ASHG) in Orlando, and we’re looking forward to checking in with customers and partners while at the show. Look for us at booth #745, where we’ll be exhibiting our sample-to-insight solutions. And while you’re perusing the posters, don’t miss the ones listed below — we think they’re particularly interesting.

Leveraging unique molecular identifiers to improve low-frequency variant calling in QIAseq V3 panels
– PgmNR 1333

(Bioinformatics and Computational Approaches)

Wednesday, Oct. 18 from 2.00 p.m. – 3.00 p.m.
Presenter: Bjarni Vilhjalmsson
To improve detection of low-frequency variants in cancer, QIAGEN scientists created a sample to insight solution using QIAseq targeted panels to incorporate unique molecular identifiers for NGS, followed by data analysis with the Biomedical Genomics Workbench software. Applying this innovative workflow to several data sets, the team significantly increased sequencing quality and achieved more accurate estimates of variant frequency.

DNA methylation of TNF decreases after an intense bout of eccentric exercise
– PgmNR 1642

(Epigenetics and Gene Regulation)

Wednesday, Oct. 18 from 3.00 p.m. – 4.00 p.m.
Presenter: Bethan Hussey
The first of two posters about epigenetic studies at Loughborough University in the United Kingdom, which examined the influence of exercise in altering DNA methylation and gene expression linked to inflammatory conditions. Using QIAGEN’s EpiTect LyseAll kits and Pyromark Q48 Autoprep assays, the scientists found significant changes in methylation of two genes post-exercise.

It does not have to be the whole exome: Mendeliome sequencing increases the diagnostic yield in patients with unexplained intellectual disability by 30%
– PgmNR 1048

(Mendelian Phenotypes)

Wednesday, Oct. 18 from 3.00 – 4.00 p.m.
Presenter: Andreas Rump
Using NGS to investigate causes of delayed development in children, researchers at the University of Technology Dresden and University Clinic Leipzig in Germany relied on QIAGEN’s Biomedical Genomics Workbench software for variant calling, a critical step in interpreting genetic findings.

Limits of indel detection using CLC alignment and variant calling
– PgmNR 1265

(Bioinformatics and Computational Approaches)

Thursday, Oct. 19 from 2.00 p.m. – 3.00 p.m.
Presenter: Tejaswi Koganti
Researchers at the Mayo Clinic in Rochester, Minn., tested CLC software for variant calling of small genetic variations known as indels. The study found QIAGEN’s CLC bioinformatics tools coupled with NGS delivered 95% accuracy in identifying insertions of fewer than 30 base pairs and deletions of fewer than 27 base pairs.

Evaluation of QIAGEN Clinical Insight as a content resource for variant curation in a CLIA laboratory
– PgmNR 602

(Cancer Genetics)

Thursday, Oct. 19 from 3.00 p.m. – 4.00 p.m.
Presenter: Kambiz Karimi
Counsyl, a clinical laboratory in South San Francisco, Calif., compared QIAGEN Clinical Insight (QCI) software for interpretation of NGS results from 1,900 variants in hereditary cancer and other diseases to manual interpretation by PhD scientists and genetic counselors. The study found QCI’s coverage of variants was comprehensive and concordant with the lab’s own analysis. According to the poster, QCI facilitated significant time savings, freeing up lab staff time for difficult cases.

DNA methylation of PPARGC1A is associated with cycling performance
– PgmNR 1658

(Epigenetics and Gene Regulation)

Thursday, Oct. 19 from 3.00 p.m. – 4.00 p.m.
Presenter: David John Hunter
The second poster about epigenetic studies at Loughborough University in the United Kingdom, about the effects of exercise on DNA methylation and gene expression.

We hope to see you at the show!

 

ASHG 2016 was an exciting event for us. We loved the beautiful city of Vancouver, BC, and our calendars were packed with speakerships, poster presentations and meetings with peers and colleagues. We also announced our new Sample-to-Insight solutions for liquid biopsies and hereditary diseases — which included our bioinformatics solutions, and our booth was buzzing with people who wanted to learn more. Our public-facing ASHG activities were a germane reflection of the event’s overarching theme: “Sharing Discoveries. Shaping our Future.” Over the course of five days during ASHG, QIAGEN Bioinformatics staff delivered six separate in-booth presentations, five poster presentations and an educational workshop focused on liquid biopsy, RNA-seq, and hereditary diseases.

If you missed them, or would like to see them again, you can see Jean-Noel Billaud's presentation on an Integrative approach to biomarker discovery: Comparative analysis of two cancers using genomics and transcriptomics from RNA sequencing data here, and Helge Martens' on Rapid identification and prioritization of pathogenic variants associated with anomalies of the kidneys and urinary tract here.

We were not the only ones who were busy during ASHG. The Broad Institute’s new beta of its Genome Aggregation Database, or “gnomAD” was announced, which boasts information from 126,216 human exomes and 15,136 whole human genomes and doubles the number of exomes available from the ExAC population database. This news resonated strongly with us because we’re championing similar efforts with the Allele Frequency Community — our opt-in community resource which encourages the sharing of anonymized, pooled frequency statistics among laboratories. The industry’s continued drumbeat toward precision medicine was another recurring theme, going hand-in-hand with the strong focus on Canada’s efforts to adopt its own version of 2008’s U.S. Genetic Information Nondiscrimination Act. We also saw continued buzz around CRISPR technology, with several ASHG sessions dedicated to both the implications and obligations inherent in genome editing technology.

We hope you enjoyed your time at ASHG and we hope to see you soon. If you have questions about liquid biopsy or related solutions, do not hesitate to contact us.

Our next big event will be AMP 2016 in Charlotte, NC from Nov. 10-12 and the NGS Congress in London from Nov. 10-11. Keep an eye on this site for updates about what we’ll be doing there. We hope you enjoyed your time at ASHG and we hope to see you soon. If you have questions about liquid biopsy or related solutions, do not hesitate to contact us.

Sample to insight solutions for liquid biopsy, hereditary diseases, and RNA-seq

Meet us at ASHG 2016
Together with leading scientists and clinicians from around the world we will present recent findings at ASHG in Vancouver, Canada October 18-22. You can meet us in the exhibit hall where we'll have a series of presentations in our booth, at the poster sessions, or you can join our workshop where invited speakers will present their NGS sample to insight solutions.

Workshop

Sample to Insight NGS solutions: Multimodal liquid biopsy WGS, trio and family analyses, and RNA sequencing analysis and interpretation
Date and time: Thursday, October 20, 2016 at 1:00 p.m. - 2:30 p.m.
Location: Room 13, East building, Convention Center

Speakers:

In-booth presentations

You are welcome to visit us at booth #1234 during the exhibition hours. Our experts will be there to discuss and present our solutions and will also host the following in-booth presentations:

Wednesday October 19

10:30 a.m. / 2:45 p.m.   Comparative transcriptome analyses of HCC and EEC highlight common molecular and biological processes
10:45 a.m. / 3:00 p.m.   QIAseq Targeted NGS: Digital Sequencing for high performance mutation detection
12:45 p.m.   QIAGEN Clinical Insight – Clinical interpretation and reporting of complex NGS data, made simple
1:15 p.m.   Sample-to-Insight from Cell-free DNA

Thursday October 20

10:30 a.m. / 2:45 p.m.   HGMD: Comprehensive coverage of published inherited disease mutations
10:45 a.m. / 3:00 p.m.   Prioritizing causal variants for rare, inherited syndromes, using patient phenotypes
12:45 p.m.   QIAGEN Clinical Insight – Clinical interpretation and reporting of complex NGS data, made simple
1:15 p.m.   Sample-to-Insight from Cell-free DNA

Poster presentations

Phenotypic-Driven Prioritization of Trio-Based Whole Genome Sequencing Data for Congenital Disorders
Presented by Alina Khromykh on Thursday, October 20 at 2:00 p.m. - 3:00 p.m.
Poster# 1721T, Bioinformatics and Computational, Exhibit Hall B, West Building

Sensitive and Reliable Variant Detection From Challenging Samples
Presented by Nan Fang on Thursday, October 20 at 2:00 p.m. - 3:00 p.m.
Poster# 2873T, Cancer Genetics, Exhibit Hall B, West Building

Implementing molecular barcode counting into a comprehensive integrated targeted sequencing portfolio and bioinformatics pipeline
Presented by Eric Lader on Thursday, October 20 at 3:00 p.m. - 4:00 p.m.
Poster# 728T, Molecular and Cytogenetic Diagnostics, Exhibit Hall B, West Building

Leveraging an Advanced Knowledge Base of Biological Pathways and Network Analytics to Identify Disease-Causing Mutations from Clinical Genome and Exome Sequence Data with Increased Efficiency and Accuracy
Presented by Sohela Shah on Friday, October 21 at 2:00 p.m. - 3:00 p.m.
Poster# 1761F, Bioinformatics and Computational, Exhibit Hall B, West Building

miRNA as liquid biopsy biomarkers in cancer
Presented by Brian Dugan on Friday, October 21 at 2:00 p.m. - 3:00 p.m.
Poster# 2892F, Cancer Genetics, Exhibit Hall B, West Building

More information

For more details about ASHG 2016, please visit the official event page.
You can find more information about all QIAGEN solutions at qiagen.com.

ASHG 2015 was everything we hoped it would be: interesting and inspiring scientific presentations and a place to reconnect with friends and customers. When we weren’t manning a busy booth, our team had a wonderful time soaking in the latest and greatest in human genetics.

Here is a recap of our scientific line up at the show:

Tuesday October 6, Dan Richards, PhD., VP of Biomedical Informatics, QIAGEN Bioinformatics, gave a presentation about “Genome-scale ACMG pathogenicity classification using comprehensive curated clinical evidence and data.”

Wednesday October 7, we hosted a workshop with two guest speakers: Yuval Itan from Rockefeller University and Ben Solomon from Inova.
Yuval Itan talked about “NGS Diagnostic Odyssey - From Bench to Beside: Join fellow investigators in an educational overview of how bioinformatic solutions transform NGS results into actionable hereditary disease insights”.
Ben Solomon gave a presentation on “Solving Diagnostic Odysseys in the Neonatal Intensive Care Unit Achieving Valuable Insight from a Single Cell Genome.”

And Thursday October 8 was the time for our three poster presentations:

How can our solutions help you?

The solutions featured in our speakers presentations may also further your NGS studies. Take a look here and get inspired:

Of course you're also more than welcome to contact us for any questions you might have. Hope to see you next year in Vancouver - we’re already looking forward to it!

We are pleased to announce the launch of our new end-to-end solution for hereditary diseases; an offering including Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity® Variant Analysis™, and HGMD®.

This new solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants in hereditary and rare diseases from NGS data.

For more information on the solution, please read the official press release below.

 

Press Release

QIAGEN launches new bioinformatics solution for hereditary diseases

Enhancing and accelerating analysis and interpretation of next-generation sequencing data

Baltimore, Maryland, and Hilden, Germany, October 5, 2015 – QIAGEN N.V. (NASDAQ: QGEN; Frankfurt Prime Standard: QIA) today announced the launch of a new QIAGEN hereditary disease solution for research labs to accelerate solve rates in diagnostic odyssey cases, while freeing up time and resources by enabling researchers to directly focus on the right causal candidates. The offering includes QIAGEN’s Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity® Variant Analysis, and HGMD® Human Gene Mutation Database. The new end-to-end solution is rolling out this week at the American Society for Human Genetics (ASHG) Annual Meeting in Baltimore. 

“QIAGEN continues to expand our solutions to enable the incredible advances that clinical research labs are making every day, particularly in next-generation sequencing for hereditary diseases,” said Dr. Laura Furmanski, Head of QIAGEN’s Bioinformatics Business Area. “By providing the market’s most comprehensive biomedical content, more than 10 million findings in our QIAGEN Knowledge Base, and the benefits of 16 years of experience in expert curation, we ensure the highest-quality analysis and interpretation – helping customers move from Sample to Insight.”

QIAGEN’s hereditary disease solution addresses the NGS analysis bottleneck by delivering seamless and highly accurate end-to-end workflows for the identification and interpretation of causal variants in hereditary and rare diseases from NGS data. A laboratory using this new hereditary disease solution can achieve a case solve rate as high as 99%, while significantly reducing the rate of irrelevant variants for follow-up by 94% to 100%. These close to perfect solve rates are not possible using any other bioinformatics solution available in the market today, according to the latest benchmarking study that QIAGEN will present at ASHG. The solution is cost-effective and can handle a high volume of samples (for example, 18,000 whole genomes per year). In addition, the QIAGEN Knowledge Base enables collaborative progress for clinical research labs that share information on hereditary diseases in datasets such as the Allele Frequency Community.

“The ability to differentiate between a mutation you might expect to see by chance and a mutation that is potentially disease-causing requires context from as many genomes as possible,” said Dr. Christopher Mason, assistant professor in the Institute for Computational Biomedicine at Weill Cornell Medical College. “With the Allele Frequency Community, you immediately get access to hundreds of collaborators who are sharing this data openly and transparently. It’s a big step forward.”

QIAGEN will be exhibiting the hereditary disease solution during ASHG at booth #1622, demonstrating Biomedical Genomics Workbench, Biomedical Genomics Server Solution, Ingenuity Variant Analysis and HGMD. In addition, several experts are participating in educational sessions and poster presentations. Among them:

October 6, 10:20 a.m. – 10:30 a.m., HGVS (Human Genome Variation Society) meeting, Chesapeake Room, Holiday Inn Baltimore Inner Harbor: 

October 7, 1:00 p.m. – 2:30 p.m., Loch Raven room, 2nd floor, Sheraton Inner Harbor Hotel: 

October 8, 1:00 p.m. – 2:30 p.m., Baltimore Convention Center:  

October 8, 11:00 a.m. – 1:00 p.m., three poster presentations:

Participants also can visit QIAGEN’s booth #1621, across the aisle from QIAGEN Bioinformatics, to learn about Sample to Insight solutions for exosomes, FFPE, circulating nucleic acids and single cells.  

QIAGEN’s integration of Ingenuity Systems, CLC bio and BIOBASE has created the industry-leading provider of integrated bioinformatics solutions and expertly curated content. For more information, on the QIAGEN hereditary disease solution or a demonstration or a trial of these products, please visit QCI Interpret for Hereditary Disease.

About QIAGEN

QIAGEN N.V., a Netherlands-based holding company, is the leading global provider of Sample to Insight solutions to transform biological materials into valuable molecular insights. QIAGEN sample technologies isolate and process DNA, RNA and proteins from blood, tissue and other materials. Assay technologies make these biomolecules visible and ready for analysis. Bioinformatics software and knowledge bases interpret data to report relevant, actionable insights. Automation solutions tie these together in seamless and cost-effective molecular testing workflows. QIAGEN provides these workflows to more than 500,000 customers around the world in Molecular Diagnostics (human healthcare), Applied Testing (forensics, veterinary testing and food safety), Pharma (pharmaceutical and biotechnology companies) and Academia (life sciences research). As of June 30, 2015, QIAGEN employed approximately 4,400 people in over 35 locations worldwide. Further information can be found at http://www.qiagen.com.

Certain of the statements contained in this news release may be considered forward-looking statements within the meaning of Section 27A of the U.S. Securities Act of 1933, as amended, and Section 21E of the U.S. Securities Exchange Act of 1934, as amended. To the extent that any of the statements contained herein relating to QIAGEN's products, markets, strategy or operating results, including without limitation its expected operating results, are forward-looking, such statements are based on current expectations and assumptions that involve a number of uncertainties and risks. Such uncertainties and risks include, but are not limited to, risks associated with management of growth and international operations (including the effects of currency fluctuations, regulatory processes and dependence on logistics), variability of operating results and allocations between customer classes, the commercial development of markets for our products in applied testing, personalized healthcare, clinical research, proteomics, women's health/HPV testing and nucleic acid-based molecular diagnostics; changing relationships with customers, suppliers and strategic partners; competition; rapid or unexpected changes in technologies; fluctuations in demand for QIAGEN's products (including fluctuations due to general economic conditions, the level and timing of customers' funding, budgets and other factors); our ability to obtain regulatory approval of our products; difficulties in successfully adapting QIAGEN's products to integrated solutions and producing such products; the ability of QIAGEN to identify and develop new products and to differentiate and protect our products from competitors' products; market acceptance of QIAGEN's new products, the consummation of acquisitions, and the integration of acquired technologies and businesses. For further information, please refer to the discussions in reports that QIAGEN has filed with, or furnished to, the U.S. Securities and Exchange Commission (SEC).

Oct 6th - Oct 10th, 2015

ASHG 2015 will be held in Baltimore, Maryland from Tuesday, October 6 through Saturday, October 10, 2015.

It's the 65th ASHG and the meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics: at invited platform and poster sessions, on the trade show floor, and at interactive workshops and events.

QIAGEN Bioinformatics team will be in Booth #1622 ready to show you how our Sample to Insights solutions can help you in your research. We will be demonstrating Ingenuity® Variant Analysis™, Biomedical Genomics Workbench, HGMD, and Inova Genomes — and we’d be happy to answer your questions.
We also invite you to stop by the QIAGEN booth #1621 across the aisle to learn about sample to insight solutions for exosomes, FFPE, circulating nucleic acids and single cells.

Our scientific program

We have a number of QIAGEN Bioinformatics executives participating in educational sessions.

10-min presentation:

Workshop:

This event will be held in room Loch Raven, 2nd floor, Sheraton Inner Harbor Hotel.

Poster sessions:

About ASHG

For more than six decades, the American Society of Human Genetics Annual Meeting has offered the latest news and views about all areas of human genetics. This year, in its 65th iteration, ASHG promises to uphold that tradition: it will take place from October 6-10 at the Baltimore Convention Center, where more than 6,500 attendees from around the globe will learn about and discuss cutting-edge research in the field. For QIAGEN Bioinformatics, the conference offers a chance to focus on hereditary diseases, including cancer, and our various platforms, tools, and partnerships that allow researchers to further their work, including hereditary and rare disease analysis and interpretation in one solution with Biomedical Genomics Workbench and Variant Analysis with HGMD®, Inova Genomes, QIAGEN® Clinical Insight (hereditary cancer application) and collaborative enterprises like the Allele Frequency Community.

Listed as one of the best conferences to attend by a GenomeWeb survey, ASHG is well known for its broad scope and insightful content. The 2015 agenda offers a number of intriguing sessions — from symposia and workshops to keynotes and poster sessions — with topics including the genetics of disease, science communication, and policy updates, among many others. In addition to its abundant opportunities for scientists to network and learn through interactive sessions, ASHG features a large exhibition space, where more than 3,000 posters will be on display and more than 200 companies will provide updates on their products and services.

Several sessions stand out on the ASHG agenda this year. Kicking off the meeting, ASHG President Neil Risch will address how, through research and clinical practice, genetics is poised to make a significant impact on society and technology. Immediately following that session, Risch will host a symposium about the progress of genomics and electronic health records with four thought leaders in this space. In addition, several sessions will drill down into the genetics of disease, which is helping to move the needle on more effective medical treatment.

We’re particularly pleased to see such a focus on NGS analysis and interpretation — several of the scientific sessions will report on new methods as well as case studies of how high-quality analysis and interpretation made a difference. Many of the sessions also touch on the importance of analyzing more diverse populations. As co-founders of the Allele Frequency Community, we heartily support efforts to expand our public genetic databases to reflect variation seen in even very small ethnic populations.

For more information on ASHG, click here.

Sample to Insight
linkedin facebook pinterest youtube rss twitter instagram facebook-blank rss-blank linkedin-blank pinterest youtube twitter instagram
This site is registered on wpml.org as a development site. Switch to a production site key to remove this banner.