Gene Variant Databases

HGMD Pro in action: Search, curate and classify genetic variants - Session 1

Thu, 06 Jun 2024 17:04:21 GMT

As the use of next-generation sequencing (NGS) in diagnostics increases, so does the demand for analysis methods that can speed up turnaround time while ensuring the quality of variant analysis. Since information on a variant plays a critical role in determining its influence on a patient’s diagnosis and treatment, clinicians require a high-quality, trusted knowledge base to lessen manual review and focus on patient care instead.

In this previously aired live, interactive training session, our technical expert demonstrates how the Human Gene Mutation Database (HGMD) Professional can help you get better variant data faster. You will learn how to:

Differentiate between clinically significant variants and variants of unknown significance (VUS)
Use batch search vs. advanced search, including their differences
Curate genes using HGMD Pro’s accurate, up-to-date information
Determine the predominant type of genetic variant that occurs in a specific gene to understand the genetic mechanisms underlying associated diseases
Tackle additional topics of interest based on registration feedback

Germline and Somatic Variant Investigation using COSMIC, HGMD and QCI-IT

Thu, 02 May 2024 17:06:33 GMT

The accurate identification and annotation of germline and somatic variants rely on the accuracy and depth of reference databases containing information about the genetic variants, any associated phenotype and their clinical implications. By combining COSMIC, HGMD and QIAGEN QCI IT, scientists can annotate gene variants using the world’s most comprehensive and up-to-date curated scientific evidence and find biological connections in gene variants with manually curated scientific findings. The software and databases allow you to get valuable and reliable insights for your research project and speed up your discoveries related to disease-causing and disease-associated germline and somatic variants.

In this training, you will:

1. Learn about the Catalogue of Somatic Mutations in Cancer (COSMIC), the world’s largest, most comprehensive, expert-curated resource for somatic mutations in human cancers, and how it can help you identify variants of interest for cancer research.
2. Hear about the breadth and depth of the Human Gene Mutation Database (HGMD) and how it can aid in your search for disease-causing and disease-associated germline mutations.
3. Explore the capabilities of QCI IT, which can help accelerate your discoveries from hereditary or tumor cohort analyses and find associations between gene variants and diseases from VCF files.

Advances in Genomic Testing for Rare Disease Diagnostics

Tue, 26 Mar 2024 17:54:30 GMT

Over the past decade, whole-exome and whole-genome sequencing have transformed the diagnosis of patients with suspected rare genetic diseases. However, despite recent advancements, a large number of patients with rare genetic diseases remains undiagnosed for years because they have limited access to comprehensive genomic testing.

In this virtual roundtable of leading rare disease experts, panelists will discuss:

The state of clinical genomic testing at their institutions.
How recent advances in sequencing technology and data analysis, including artificial intelligence (AI), are increasing diagnostic rate.
How barriers to patient access to testing can be removed to improve the care of all people living with rare genetic diseases.

Leveraging expert-curated knowledge from COSMIC and QIAGEN to avoid pitfalls,...

Wed, 13 Mar 2024 13:05:09 GMT

The cancer drug discovery landscape is shifting. While research continues to grow in cost and complexity, the pace of development has never been faster. Biopharmaceutical companies can’t afford to waste time and resources pursuing ineffective or unsafe ideas.

In this talk, our experts discuss how biopharmaceutical companies can leverage key genomic, biomedical, and clinical trial databases to improve and accelerate cancer drug discovery while avoiding potential pitfalls. Through a series of use cases, attendees will learn about expert-curated knowledge from the Wellcome Sanger Institute and QIAGEN, and how to use these resources to better predict cancer-driving effects of mutations, identify available drugs that target specific variants, and accelerate indication expansion and repurposing of existing cancer therapies.

Learning objectives:

Examine use-cases of how to leverage expert-curated databases across multiple phases of cancer drug development.
Discover key applications of these databases, including determining the function, frequency, and actionability of specific mutations.
Discuss potential pitfalls and clinical consequences, and how to avoid them early with data-driven drug target and biomarker qualification.

Using COSMIC to predict, identify, and avoid mutational consequences of...

Mon, 11 Mar 2024 13:14:49 GMT

Whether your lab is researching and developing targeted cancer therapies or you are analyzing and interpreting diagnostic tests at the point-of-care, a critical part of your workflow is understanding the structural and functional impact of cancer-related mutations.

The Catalogue Of Somatic Mutations In Cancer (COSMIC) is an expert-curated database encompassing a wide variety of somatic mutation mechanisms causing human cancer. Containing more than 24 million somatic variants with detailed information on mutation distribution, effects, and signatures, COSMIC helps users better predict the cancer-driving effects of mutations and identify available drugs that target specific variants. COSMIC continues to expand its utility with continuous updates to its Mutational Signatures, the Cancer Mutation Census, and Mutation Actionability in Precision Oncology products.

To illustrate key applications of these features, this webinar focuses on how COSMIC can be used to avoid mutational consequences in cancer drug development and to profile the mutational signatures of cancer therapies in clinical samples.

Through these clinical and discovery use cases, attendees will learn:

· How to evaluate genomic loci using the comprehensive coding and non-coding variant annotations within COSMIC

· How to integrate these variants with curated findings and summaries of mutational impact and clinical actionability

· How mutational signatures could be useful for clinical diagnosis and drug development applications now and in the future

Case studies: Real world examples of how labs can use HGMD Professional to...

Wed, 17 Jan 2024 18:37:06 GMT

The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false positives or false negatives, can result in inappropriate medical interventions or missed opportunities for treatment. To mitigate the risks associated with variant misinterpretation, the professional genetics community has established guidelines for variant annotation. However, putting these guidelines into practice is difficult and time-consuming, requiring a meticulous process of gathering data and compiling evidence for each identified genetic variant and drawing information from various sources to assess its clinical significance. Therefore, the accuracy of variant annotation significantly relies on reputable and regularly updated reference databases that contain information about well-documented genetic variants and their clinical implications.

Join Dr. Ana Krivokuca, The Head of the Department of Genetic Counselling at the Institute of Oncology and Radiology Serbia, as she presents a case study webinar on how to use the Human Gene Mutation Database (HGMD) Professional, a comprehensive, diverse, meticulously annotated and regularly updated resource for finding disease-causing mutations, for multiple clinical genetic testing applications.

In this webinar, attendees:

Examine three neurological disorder case studies of how to use HGMD Professional to link phenotypes to causative variants, identify and interpret clinically relevant variants, discover ethnically relevant variants, and develop gene panels.
Learn how HGMD Professional is maintained by a team of expert curators and updated every three months.
Hear a real-life story of how HGMD Professional can help prevent misdiagnoses with an example of variant misclassification causing inappropriate and devastating medical intervention.

Insights into cancer genomics via COSMIC v98

Fri, 21 Jul 2023 13:51:59 GMT

Our understanding of cancer mechanisms, genetics and complexities continues to expand rapidly. Without a streamlined, standardized and easy to understand organizational system to keep track of this plethora of knowledge, potentially crucial data can effectively be lost. Trusted by scientists for nearly 20 years, COSMIC is the world’s largest, most comprehensive, expert-curated resource for exploring the impact of somatic mutations in human cancers.

Join this webinar with Leonie Hodges, Scientific Communications Officer for COSMIC, to take a journey through COSMIC’s mission and data annotation processes, the results of the latest curation focus on rare skin tumors, and how the team has revamped COSMIC’s download files to improve interoperability, accessibility and useability.

How to simplify somatic NGS analysis & reduce literature review time by 90%...

Wed, 29 Mar 2023 15:29:52 GMT

Across clinical oncology applications, from molecular testing to cancer research, the ability to identify potentially actionable genomic and genetic alterations to exploit the molecular vulnerabilities of cancer is a burgeoning field. Due to the sporadic nature of somatic cancers and the expansion of next-generation sequencing, the number of variants detected through tumor testing is growing exponentially, presenting a challenge to clinical cancer genetics professionals working to confidently identify meaningful mutations that could influence decision-making at point-of-care.

Join Chelsea Alexander, a certified genetic counselor, and Aarthi Goverdhan, our lead oncology application development scientist, for this live webinar to discover a new database that can streamline your somatic NGS analysis and significantly reduce your literature review time—by up to 90%!

In this webinar, we will introduce you to the Human Somatic Mutation Database (HSMD)—a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, this expert-curated resource contains data from over 419,000 real-world clinical oncology cases combined with insights from the QIAGEN Knowledge Base, providing clinically observed variant frequencies across diseases, and diving deep into gene-level, alteration-level and disease-level information. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels and professional guidelines, explore clinical trials, and receive detailed annotations for each observed variant. In addition, users can interrogate a bibliography of over 170,000 PubMed articles and access detailed alteration-specific summaries written by PhD scientists.

Precisely target the causes of malignancy on a molecular level

Thu, 09 Jun 2022 14:16:00 GMT

Key to precision oncology is the development of expert databases that organize and standardize information on cancer-related genetic variants, as well as their associated diagnostic, prognostic, and therapeutic implications, in a way that is easily accessible to multiple users. COSMIC, the Catalogue of Somatic Mutations in Cancer, was established nearly 20 years ago, and has been a gold-standard resource for this data ever since. Today, COSMIC is used on a daily basis in research labs, cancer centers, biotech, and pharmaceutical companies, where it comes into play as one of the key, trusted sources to analyze genomic data.

In this webinar, Dr. Zbyslaw Sondka, COSMIC's Senior Scientist, and Rebecca White, COSMIC's Scientific Communications Manager, will walk you through 3 key-aspects of the industry leading somatic mutation database.

At the conclusion of this webinar, participants will be able to:

· Apply the breadth and depth of COSMIC's high-quality somatic mutation data to identify proteins, biological processes, and pathways driving disease, which can be used to design new therapeutic approaches that precisely target causes of the malignancy on a molecular level.

· Use tools and resources within COSMIC to bring actionable meaning to genomic data, such as the identification of driver mutations, functional biological consequences, and clinically significant somatic variants, which can aid diagnostics and treatment decisions.

· Explain how COSMIC's expert curation process enables the accumulation and integration of data on rare cancers (over 1500 unique cancer types have been recorded to date), and how this data could enable the development of cross-cutting solutions based on molecular behaviors and genetic similarities between cancers rather than their origin-location.

Access to real-world data and 2 decades of expert curation

Wed, 20 Apr 2022 07:43:42 GMT

Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular vulnerabilities of cancer is becoming increasingly difficult. Due to the sporadic nature of somatic cancers, the number of detected variants is exponentially growing, challenging scientists to confidently identify meaningful mutations that could influence or improve decisions in experimental design, at point-of-care, or in drug development.

In this webinar, we will introduce you to the Human Somatic Mutation Database (HSMD)—a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, this expert-curated resource contains content from over 300,000 real-world clinical oncology cases combined with content from the QIAGEN Knowledge Base, providing gene-level, alteration-level, and disease-level information including clinically observed gene and variant frequencies across diseases. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant. In addition, users can interrogate a bibliography of over 150,000 variant specific PubMed articles and access individual summaries alteration-type specific information written by PhD scientists.

In this webinar, you will learn:

What content sources power HSMD
How to use and apply HSMD for multiple applications, including research, molecular testing, and pharmaceutical development
When and where you can access HSMD

Identify meaningful mutations in somatic tumor testing

Mon, 14 Feb 2022 14:54:55 GMT

From Information Overload to Actionable Insights

Precision medicine is transforming cancer care, with next-generation sequencing (NGS) enabling the simultaneous analysis of multiple genomic alterations with therapeutic implications. However, due to the sporadic nature of somatic cancers and the increasing uptake of NGS testing, the number of detected variants is exponentially growing, challenging labs to confidently identify meaningful mutations that could influence or improve decisions at the point of care. Approximately 50 percent of the oncologists in the United States find NGS results sometimes or often difficult to interpret, while 31 percent of small to medium-sized labs in Europe view a lack of knowledge and exposure to routine analyses and interpretation as the most critical bottleneck in NGS testing [1-2].

In this webinar, Ana Krivokuca will present a real-world use case of how the Institute for Oncology and Radiology of Serbia (IORS), a national cancer research center that provides routine NGS testing for cancer patients, uses the Human Somatic Mutation Database (HSMD) in their NGS testing pipeline to validate, assess, and better understand the clinical significance of detected variants.

A new somatic database from QIAGEN, HSMD combines two decades of expert-curated content with data from over 300,000 real-world clinical oncology cases to provide deep genomic insight into the molecular characterizations of a patient’s tumor. Easy to search with new content added weekly, HSMD enables users to explore key genes or mutations with driving properties or clinical relevance, search for associated treatment options, evaluate secondary findings, and develop customized gene panels.

Attendees will:

Learn how IORS uses HSMD to identify actionable variants, analyze complex reports, evaluate secondary findings, and design custom gene panels.
Explore HSMD content and features through a virtual demonstration.
Receive a complimentary, five-day trial of HSMD.

Speaker:
Ana Krivokuca, PhD
Head of Department for Genetic Counseling
Institute for Oncology and Radiology of Serbia