18664975. VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS simplified abstract (ILLUMINA, INC.)
Contents
- 1 VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS
- 1.1 Organization Name
- 1.2 Inventor(s)
- 1.3 VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS - A simplified explanation of the abstract
- 1.4 Potential Applications
- 1.5 Problems Solved
- 1.6 Benefits
- 1.7 Commercial Applications
- 1.8 Questions about Genomic Sequence Variant Validation Technology
- 1.9 Original Abstract Submitted
VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS
Organization Name
Inventor(s)
Tingting Jiang of San Diego CA (US)
Chen Zhao of San Diego CA (US)
VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS - A simplified explanation of the abstract
This abstract first appeared for US patent application 18664975 titled 'VALIDATION METHODS AND SYSTEMS FOR SEQUENCE VARIANT CALLS
The techniques presented in this patent application focus on identifying and validating sequence variants in genomic sequence data by generating an error rate reflective of sequence errors present in the data. This error rate can be used to validate potential sequence variants, particularly based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.
- The patent application introduces techniques for identifying and validating sequence variants in genomic sequence data.
- The error rate generated reflects sequence errors present in the data, aiding in the validation of potential sequence variants.
- Errors identified during consensus sequence confirmation for sequence reads with unique molecular identifiers form the basis of the error rate calculation.
Potential Applications
The technology outlined in this patent application could be applied in various fields such as genetic research, personalized medicine, and forensic analysis.
Problems Solved
This technology addresses the challenge of accurately identifying and validating sequence variants in genomic data, which is crucial for various applications in research and diagnostics.
Benefits
The benefits of this technology include improved accuracy in identifying sequence variants, enhanced validation processes, and increased reliability of genomic data analysis.
Commercial Applications
Title: Genomic Sequence Variant Validation Technology This technology could be utilized in genetic testing laboratories, pharmaceutical companies, and research institutions for enhancing the accuracy and reliability of genomic data analysis, ultimately leading to advancements in personalized medicine and genetic research.
Questions about Genomic Sequence Variant Validation Technology
1. How does this technology compare to existing methods for identifying sequence variants in genomic data? 2. What potential impact could this technology have on the field of genetic research and personalized medicine?
Original Abstract Submitted
Presented herein are techniques for identifying and/or validating sequence variants in genomic sequence data. The techniques include generating an error rate reflective of sequence errors present in the genomic sequence data. The error rate may be used to validate potential sequence variants. The error rate may be based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.
