System and method for secondary analysis of nucleotide sequencing data
US11646102B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Oct 6, 2017 |
| Grant date | May 9, 2023 |
| Priority date | — |
| Expiry date | Jun 14, 2040 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B50/30
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Disclosed herein are systems and methods for performing secondary analyses of nucleotide sequencing data in a time-efficient manner. Some embodiments include performing a secondary analysis iteratively while sequence reads are generated by a sequencing system. Secondary analyses can encompass both alignment of sequence reads to a reference sequence (e.g., the human reference genome sequence) and utilization of this alignment to detect differences between a sample and the reference. Secondary analysis can enable detection of genetic differences, variant detection and genotyping, identification of single nucleotide polymorphisms (SNPs), small insertions and deletion (indels) and structural changes in the DNA, such as copy number variants (CNVs) and chromosomal rearrangements.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.