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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.
What's Popular in Variant Classification
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...
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...
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...
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...
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...
