Session 3: Into the Cat-VRS: Cracking a Clinical Conundrum Before It’s Too Late
Presentation Type
Invited
Student
No
Track
Genomics
Abstract
Advancements in rapid genome sequencing have transformed healthcare as genomic testing has become routine in pediatric healthcare and oncology. However the resulting rapid surge in clinical cases has strained the bandwidth of genomic variant analysts.
Variant interpretation is the process of finding and collating evidence to support or refute the clinical significance of a variant observed in a patient’s genome. However, while a patient is assayed with a single incredibly specific variant, such as an A-to-T substitution at index 140,453,136 of chromosome 7, clinical evidence is generally associated with abstract classes of variation: categorical variants. The variant example above belongs to the class of BRAF V600E missense variants, which affect a vital protein’s function and often lead to cancer. Therefore a key step in variant interpretation for a given assayed variant involves determining the categorical variants to which it belongs. Currently this is done manually, a process that cannot scale to match even our current caseload, and that requires the analyst to already know what categorical variants to look for, which limits their ability to interpret new or rare variants.
The Categorical Variant Representation Specification (Cat-VRS) is a data standard being developed by the Global Alliance for Genomics and Health to encode categorical variant data in a common, computable, and open-source model. Cat-VRS will help harmonize genomic data across disparate knowledgebases, support computational tools in variant interpretation, and allow the search and curation of categorical variant evidence entries to scale with ubiquitous genomic testing.
Start Date
2-6-2024 9:50 AM
End Date
2-6-2024 10:50 AM
Session 3: Into the Cat-VRS: Cracking a Clinical Conundrum Before It’s Too Late
Pasque 255
Advancements in rapid genome sequencing have transformed healthcare as genomic testing has become routine in pediatric healthcare and oncology. However the resulting rapid surge in clinical cases has strained the bandwidth of genomic variant analysts.
Variant interpretation is the process of finding and collating evidence to support or refute the clinical significance of a variant observed in a patient’s genome. However, while a patient is assayed with a single incredibly specific variant, such as an A-to-T substitution at index 140,453,136 of chromosome 7, clinical evidence is generally associated with abstract classes of variation: categorical variants. The variant example above belongs to the class of BRAF V600E missense variants, which affect a vital protein’s function and often lead to cancer. Therefore a key step in variant interpretation for a given assayed variant involves determining the categorical variants to which it belongs. Currently this is done manually, a process that cannot scale to match even our current caseload, and that requires the analyst to already know what categorical variants to look for, which limits their ability to interpret new or rare variants.
The Categorical Variant Representation Specification (Cat-VRS) is a data standard being developed by the Global Alliance for Genomics and Health to encode categorical variant data in a common, computable, and open-source model. Cat-VRS will help harmonize genomic data across disparate knowledgebases, support computational tools in variant interpretation, and allow the search and curation of categorical variant evidence entries to scale with ubiquitous genomic testing.