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Related Concept Videos

Phasor Arithmetics01:13

Phasor Arithmetics

Phasors and their corresponding sinusoids are interrelated, offering unique insights into the behavior of alternating current (AC) circuits. One way to understand this relationship is through the operations of differentiation and integration in both the time and phasor domains.
When the derivative of a sinusoid is taken in the time domain, it transforms into its corresponding phasor multiplied by j-omega (jω) in the phasor domain, where j is the imaginary unit, and ω is the angular frequency.

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Phenopacket-tools: Building and validating GA4GH Phenopackets.

Daniel Danis1, Julius O B Jacobsen2, Alex H Wagner3,4

  • 1The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States of America.

Plos One
|May 17, 2023
PubMed
Summary
This summary is machine-generated.

The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema standardizes sharing of human disease and phenotype data. Phenopacket-tools is an open-source library simplifying the creation, conversion, and validation of these crucial data structures.

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Area of Science:

  • Genomics and Health Informatics
  • Bioinformatics Standards Development
  • Clinical Data Management

Background:

  • The Global Alliance for Genomics and Health (GA4GH) is developing coordinated standards for genomics.
  • The GA4GH Phenopacket Schema standardizes sharing of disease and phenotype information for individuals or biosamples.
  • This schema supports diverse human diseases, including rare, complex, and cancer, with flexibility for specific data collection goals.

Purpose of the Study:

  • To introduce phenopacket-tools, an open-source Java library and command-line application.
  • To simplify the construction, conversion, and validation of GA4GH Phenopackets.
  • To facilitate standardized collection and exchange of phenotypic and clinical data.

Main Methods:

  • Developed a Java library with concise builders, programmatic shortcuts, and predefined ontology classes.
  • Created a command-line application for phenopacket manipulation.
  • Included validation capabilities for syntax, semantics, and user-defined requirements.
  • Provided comprehensive documentation, examples, and tutorials.

Main Results:

  • Phenopacket-tools simplifies phenopacket construction using building blocks for concepts like anatomical organs, age of onset, and clinical modifiers.
  • The toolset enables robust validation of phenopacket syntax, semantics, and adherence to custom constraints.
  • Demonstrated practical application through examples of creating, converting, and validating phenopackets.

Conclusions:

  • Phenopacket-tools enhances the implementation and standardization of phenotypic and clinical data exchange.
  • The library supports developers in building applications for phenotype-driven genomic diagnostics and precision medicine.
  • Facilitates translational research by enabling uniform data collection and analysis.