false
zh-CN,zh-TW,en,fr,de,ja,ko,pt,es,th,vi
Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
Calypso: a web-based system for team-based, longit ...
Calypso: a web-based system for team-based, longitudinal genomic care
Back to course
Pdf Summary
Calypso is a web-based system developed to address the need for longitudinal analysis in genomic diagnostics. In rare disease clinics and neonatal intensive care units, genomic sequencing is used to achieve a genetic diagnosis. However, current tools do not cater to the analysis of genomic data over time. The Calypso platform aims to fill this gap by providing longitudinal analysis, leveraging cohort-level data, and offering a compelling visual interface.<br /><br />Genetic diagnosis requires a team effort from various professionals, including physicians, geneticists, bioinformaticians, pathologists, and counselors. Existing software tools are often tailored to computational experts, limiting the involvement of the entire team. Calypso aims to support the entire diagnostic team by providing intuitive visual interfaces and comprehensive tools.<br /><br />Each team member brings unique skills and experiences to the diagnostic analysis, and Calypso offers case and cohort level dashboards, tools for phenotype description, data quality control, variant interrogation, review, and communication tools to foster deep collaboration within and between teams. The platform also facilitates the updating of diagnostic analysis results based on the most up-to-date information.<br /><br />The Calypso team is collaborating with the NeoSeq project and the Undiagnosed Diseases Network to enable querying data at the cohort level. This allows analysts to compare and investigate variants across multiple patients to identify similarities or functional consequences in the same gene. Calypso provides fast and intuitive methods for such cohort-wide investigations.<br /><br />Overall, Calypso addresses the critical needs in genomic diagnostics by facilitating longitudinal analysis, leveraging cohort-level data, and offering a user-friendly visual interface for the entire diagnostic team. The platform aims to support the ongoing process of diagnostic testing and promote collaboration and efficient analysis in genetic healthcare.
Asset Subtitle
Presenting Author - Alistair N. Ward, MA, MSci, MS, PhD; Co-Author - Isabelle B. Cooperstein, BS; Co-Author - Tony Di Sera, MS; Co-Author - Stephanie Georges, BS; Co-Author - Anders Pitman, BSC; Co-Author - Gabor Marth, DSc;
Meta Tag
Bioinformatics
Genome sequencing
Genomic Methodologies
Co-Author
Isabelle B. Cooperstein, BS
Co-Author
Tony Di Sera, MS
Co-Author
Stephanie Georges, BS
Co-Author
Anders Pitman, BSC
Co-Author
Gabor Marth, DSc
Presenting Author
Alistair N. Ward, MA, MSci, MS, PhD
Keywords
Calypso
web-based system
longitudinal analysis
genomic diagnostics
visual interface
diagnostic team
comprehensive tools
collaboration
cohort level dashboards
genetic healthcare
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
×