Variant classification is the computer-based classification of genetic variants and their variability, which usually affects genetic diagnostics as it could introduce misguided and incorrect patient classifications.
Liquid biopsies represent a transformation in the management of cancer as they have the potential to detect, characterize, and monitor cancers earlier than can be achieved with conventional...
While early genetic diagnosis can guide critical care management, the turnaround time for whole genome based diagnostic testing is months. Recent programs in neonatal populations have reduce...
Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular...
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
DATE: September 18, 2018TIME: 07:00am PDT, 2:00pm GMT Next Generation Sequencing has become an essential tool in clinical diagnostic laboratories, however this technolo...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
DATE: March 6, 2018TIME: 08:00am PST, 11:00am EST, 5:00pm CETRNA sequencing and expression arrays are transcriptomics techniques used to quantify transcribed genes and their isoforms. T...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Breast cancer is a complex heterogeneous disease, with each subtype characterized by distinct clinical features and molecular alterations. The heterogeneity of breast cancer has presented mas...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
Liquid biopsies represent a transformation in the management of cancer as they have the potential to detect, characterize, and monitor cancers earlier than can be achieved with conventional...
While early genetic diagnosis can guide critical care management, the turnaround time for whole genome based diagnostic testing is months. Recent programs in neonatal populations have reduce...
Date: January 20, 2022 Time: 11:00am (PST), 2:00pm (EST), 8:00pm (CEST) The Human Gene Mutation Database (HGMD) is a one-of-a-kind resource containing data for hundreds of thousands of varia...
Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular...
As NGS panels grow, test interpretation becomes more complex and time-consuming / With the explosion of NGS data, the need for consolidated databases with reliable and transparent curation a...
Tumor mutational burden (TMB) is an emerging biomarker that correlates with response to immunotherapeutic agents, such as checkpoint inhibitors. Recent studies indicate that a high mutation l...
Variant interpretation presents a bottleneck for many labs, posing a challenge to the broader adoption of precision medicine. The ACMG/AMP variant classification framework has provided a foun...
The BRCA1 and BRCA2 genes represent the best examples of the modern understanding of cancer molecular genetics. Testing for germline and somatic mutations in BRCA 1/2 has gradually become com...
As the compendium of putatively disease causing variants expands, gathering the most current and accurate information is critical to computing variant classifications. The QIAGEN knowledgebas...
DATE: September 18, 2018TIME: 07:00am PDT, 2:00pm GMT Next Generation Sequencing has become an essential tool in clinical diagnostic laboratories, however this technolo...
Precision medicine based on molecular profiling is moving from the realm of clinical utility studies towards standard of care. There remain, however, significant technological and implementat...
DATE: March 6, 2018TIME: 08:00am PST, 11:00am EST, 5:00pm CETRNA sequencing and expression arrays are transcriptomics techniques used to quantify transcribed genes and their isoforms. T...
The advent of next generation sequencing has transformed the way we identify mutations with clinical implications. As the compendium of variants expands, gathering the most current and accura...
DATE: June 8, 2017TIME: 10:00AM PDT, 1:00PM EDT, 7:00PM CESTAlzheimer’s Disease (AD) is the result of complex interactions between risk factors that cause pleiotropic changes in m...
Breast cancer is a complex heterogeneous disease, with each subtype characterized by distinct clinical features and molecular alterations. The heterogeneity of breast cancer has presented mas...
Targeted sequencing assays are increasingly used to identify tumor mutations that guide therapeutic decisions. Interpretation of a cancer variant’s origin and therapeutic impact poses a...
Asthma is heritable, influenced by the environment, and is modified by in utero exposures and aging; all of these features are also common to epigenetic regulation. Furthermore, genetic varia...
The advent of next generation sequencing technologies has revolutionized the clinical genetics laboratory. Labs offering NGS are faced with an onslaught of sequence variants which must be int...
This presentation focuses on contemporary methods for detection of monoclonal proteins (M-protiens) that are associated with multiple myeloma and other plasma cell dyscrasias. The basic princ...
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