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Variant Classification
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.
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JUN 15, 2023 | 7:00 AM
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...APR 19, 2022 | 7:30 AMC.E. CREDITS
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...JAN 20, 2022 | 11:00 AM
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...OCT 07, 2021 | 12:00 PM
Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular...Speaker: Beate Litzenburger, Ph.D. , Sheryl Elkin, PhDAPR 22, 2021 | 6:00 AM
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...Speaker: Dominic John , Simon Forbes, PhD , Shawn Bauer , Lisa Barrow-LaingOCT 10, 2019 | 12:00 PM
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...Speaker: Ravindra Kolhe, MD, PhDMAY 09, 2019 | 6:00 AM
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...APR 10, 2019 | 10:30 AM
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...Speaker: Anika Joecker, PhD , Jennifer Poitras, PhDNOV 14, 2018 | 12:00 PM
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...Speaker: Jennifer Poitras, PhDSEP 18, 2018 | 7:00 AM
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...JUN 20, 2018 | 7:30 AM
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...MAR 06, 2018 | 8:00 AM
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...NOV 08, 2017 | 1:30 PM
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...Speaker: Jennifer Poitras, PhDJUN 08, 2017 | 10:00 AM
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...NOV 03, 2016 | 12:00 PM
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...Speaker: Julie Deschenes, MBA, PhD , Dilhan Weeraratne, PhDMAY 12, 2016 | 1:30 PM
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...MAY 14, 2015 | 1:30 PM
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...AUG 21, 2014 | 6:45 AM
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...Speaker: Heather McLaughlin, PhD, MB(ASCP)CMPresented at: Genetics and Genomics Virtual Event Series 2014
AUG 21, 2013 | 6:00 AMC.E. CREDITS
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...
JUN 15, 2023 | 7:00 AM
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...
APR 19, 2022 | 7:30 AM
C.E. CREDITS
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...
JAN 20, 2022 | 11:00 AM
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...
OCT 07, 2021 | 12:00 PM
Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular...
Speaker:
Beate Litzenburger, Ph.D.
, Sheryl Elkin, PhD
APR 22, 2021 | 6:00 AM
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...
Speaker:
Dominic John
, Simon Forbes, PhD
, Shawn Bauer
, Lisa Barrow-Laing
OCT 10, 2019 | 12:00 PM
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...
Speaker:
Ravindra Kolhe, MD, PhD
MAY 09, 2019 | 6:00 AM
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...
APR 10, 2019 | 10:30 AM
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...
Speaker:
Anika Joecker, PhD
, Jennifer Poitras, PhD
NOV 14, 2018 | 12:00 PM
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...
Speaker:
Jennifer Poitras, PhD
SEP 18, 2018 | 7:00 AM
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...
JUN 20, 2018 | 7:30 AM
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...
MAR 06, 2018 | 8:00 AM
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...
NOV 08, 2017 | 1:30 PM
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...
Speaker:
Jennifer Poitras, PhD
JUN 08, 2017 | 10:00 AM
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...
NOV 03, 2016 | 12:00 PM
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...
Speaker:
Julie Deschenes, MBA, PhD
, Dilhan Weeraratne, PhD
MAY 12, 2016 | 1:30 PM
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...
MAY 14, 2015 | 1:30 PM
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...
AUG 21, 2014 | 6:45 AM
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...
Speaker:
Heather McLaughlin, PhD, MB(ASCP)CM
Presented at: Genetics and Genomics Virtual Event Series 2014
AUG 21, 2013 | 6:00 AM
C.E. CREDITS
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...