Unlike other mutation databases, HGMD mutations are backed by peer-reviewed publications where there is evidence of clinical impact—and the gold-standard, industry-leading resource just got better.
View the complete HGMD Professional statistics here.
When using Batch Search, the results table will now include a ClinVar column to the far right. This column will provide links to ClinVar records and list predicted classifications.
Read about the importance of having access to the most up-to-date and comprehensive database for human disease mutations in our white paper.
Learn how to take advantage of all HGMD’s features by watching our video tutorials available at our Resources Page.
New ANNOVAR databases are now available!
Learn more about how ANNOVAR can be used with HGMD for variant annotation.
Watch a recorded webinar featuring ANNOVAR here.
Genome Trax 2018.4 has updated tracks containing the 2018.4 HGMD release or all HGMD-related tracks.
Need a clinical genomic interpretation solution?
Look no further than QIAGEN Clinical Insight (QCI). Offering the highest level of interpretation transparency currently available on the market, QCI dynamically computes ACMG classification and AMP-tiering based on phenotype and clinical evidence. QCI incorporates knowledge from HGMD, CentoMD, over 30 public and proprietary databases, and over 2,000 scientific and clinical articles manually curated each month.
Kick start your year and sign-up for a free QCI demo here!
Though not technically summer, on May 25th, the EU passed the General Data Protection Regulation (GDPR) into law, creating a global ripple effect. The law impacts the world of clinical decision support software because it stipulates the “right to explanation,” around automated decision-making (i.e., algorithms) and the expected consequences of applying those decisions. This requirement for transparency does not bode well for the walled-off “black box” approach to clinical decision support. For another perspective, read this contributed piece in The Pathologist, written by our own Ramon Felciano, in which he positions QCI as an enabling tool to transition to precision medicine in a cost-effective, scalable, and transparent way.
Artificial intelligence (AI) was frequently in the news over the past few months. In particular, we saw quite a few stories about IBM’s Watson and its limitations in beating cancer. Though Watson has not yet lived up to its promise of generating insights and identifying new approaches to cancer treatment, there remains hope in the industry that AI will eventually revolutionize medicine—whether through data pattern recognition, its impact on pharmaceutical development, or—even someday—cancer. In the meantime, we at QIAGEN continue to focus on our clinical decision support tools (big data, informatics and augmented intelligence) to improve test interpretation and accuracy of results.
QIAGEN was in the news as well.
Our second consecutive win during AMP Europe’s Battle of the Bioinformatics Pipeline event was covered in GenomeWeb; we published our own recap of the results to provide additional detail and background around standardizing variant interpretation and reporting. Finally, we recently hosted three international OmicSoft User Group Meetings:
We hope you had a wonderful summer, and we look forward to the busier pace and renewed activity that fall brings.
Whether you’re using PCR or NGS, targeted panels or whole-genome sequencing, mono- or multiplex testing, we have a solution to empower your workflow. Stop by booth #607 to explore and demo some of our products, including QCI Interpret.
Sip, mingle, and connect while gearing up for an exciting weekend of events, which include three QIAGEN-sponsored Corporate Workshops and two QIAGEN Innovation Stage Spotlights.
In a not-to-be-missed talk, Dr. Fergus Couch of the Mayo Clinic will discuss the current challenges and opportunities of liquid biopsy in oncology research.
Meet us at the Innovation Stage on November 1st.
Learn about QIAGEN Clinical Insight (QCI), a flexible clinical decision support suite that is compatible with any NGS platform, running any assay, targeting any indication, including somatic, hereditary, hematological or childhood cancers. During this talk, Dan Richards, Vice President of Biomedical Informatics at QIAGEN and co-founder of Ingenuity Systems, will present a lung cancer case study to show how QCI allows you to optimize and scale your pipeline for the clinical interpretation of genetic variants—from sequence data to report sign-off—without sacrificing accuracy or utility.
We are days away from one of the largest gatherings of molecular pathologists and diagnostic professionals and we couldn’t be more excited to support your path to precision medicine.
Visit us at booth #607 to demo our solutions or chat with our experts.
Learn more at our AMP 2018 event page.
See you in San Antonio!
We are proud to share an article written by Ramon Felciano, Chief Technology Officer and Vice President, Strategy & Technology, QIAGEN Bioinformatics, that was featured in The Pathologist, a UK-based publication that considers the latest research and innovation in pathology and diagnostics. Titled “Deciding Factors,” the article shines a light on new trends in clinical labs that are improving the accuracy and efficiency of genetic test interpretation. It argues that these advances are made possible with clinical decision support (CDS) tools, which incorporate big data, sophisticated informatics, and augmented intelligence (as opposed to artificial intelligence), to better inform treatment decisions, manage liability risk, and ensure compliance with ever-changing data privacy regulations.
The adoption and implementation of CDS tools is no longer a luxury, but rather a necessity. Just a few years ago in the United States, only pre-eminent academic medical centers offered precision medicine. As stated in the article, “Today, an estimated 24 percent of hospitals will provide some form of precision medicine by the end of 2018.”(1) With the use of CDS tools and related technologies gaining traction, clinical teams need to ensure they select support tools that provide maximum interpretation transparency and detailed reporting. Dr. Felciano explains how CDS tools are personnel assets—not replacements—that enhance productivity, reliability and the practice of precision medicine.
(1)N. Versel, “Data requirements, money hold back growth of precision medicine among health systems” (2018). Available at: https://bit.ly/2qFSb60. Accessed April 18, 2018.
Research scientist Dr. Margarete Odenthal leads the translational molecular pathology group at University Hospital Cologne, putting new technologies through their paces to determine which ones best fit the needs and workflows of the diagnostics lab. Recently, she has worked closely with QIAGEN to assess sample extraction, target enrichment, and library preparation kits as well as data analysis and interpretation tools in a variety of cancer studies.
In one NGS-based study, she and her team analyzed BRCA1 and BRCA2 mutations in samples from severe ovarian cancer using QIAGEN products for library preparation, amplicon sequencing, and data analysis. Odenthal began with macrodissected FFPE ovarian cancer samples, which carried known germline point mutations or large deletions in the BRCA genes, using the GeneRead DNAseq Targeted Panels for human BRCA1 and BRCA2 exons for target enrichment. After sequencing, results were analyzed with Biomedical Genomics Workbench to identify somatic pathogenic mutations. “We used the copy number variation tool in order to see big deletions in the BRCA1 and BRCA2 genes,” Odenthal says. “Normally you don’t see these deletions very easily, so people have found this quite interesting.” By using the analysis tool to detect large deletions, her team is able to quickly evaluate pathogenic mutations likely to damage the protein.
In other work, she has been focused on new approaches to make sense of tumor activity that cannot be explained by DNA mutations alone. “In these cases, the tumor driving force might be less about mutations and more about different expression and splicing patterns,” Odenthal says. “There are some transcripts which are alternatively spliced and have a more oncogenic version of the protein.” Having this information can be relevant for decisions about which therapy to use, so Odenthal has been using a cohort of prostate cancer samples as the foundation for studies of DNA and RNA together. “QIAGEN has good chemistry to see the DNA mutations and in parallel to look at splicing variants and expression,” she notes.
In this pipeline, she combines DNA and cDNA in a single sequencing run. “You do the mutation and expression analysis in one workflow and you have everything together. I think modern pathology has to have everything in one pipeline,” Odenthal says. She believes that running separate FISH, NGS, and DNA promoter methylation analysis workflows will not be sustainable as diagnostic labs continue to ramp up their capacity. “It is much more efficient to have one workflow and get all this information,” she adds.
To learn more about how Dr. Odenthal has used QIAGEN Bioinformatics tools, read the full case study here.
Photo credit: Uniklinik Köln
