Title:
SYSTEMS AND METHODS FOR ITERATIVE AND SCALABLE POPULATION-SCALE VARIANT ANALYSIS
Document Type and Number:
WIPO Patent Application WO/2023/114415
Kind Code:
A3
Abstract:
An iterative process may be implemented for incrementally aggregating available batches of sample data with previously available batches to perform sequencing analysis. Genomic variant call files associated with one or more samples may be received in batches from sequencing devices and aggregated for performing sequencing analysis. The aggregated genomic variant call files may be used to generate cohort files and census files that comprise summary information related to the genomic variant call files in each batch. The census data in census files may be aggregated into a global census file that includes summary genome variant data. Multi-sample variant call files may be generated based on the global census file, cohort files, and census files. The genomic variant call files may be processed using parallel processing at multiple compute nodes. The files may be further compressed and overlapping data may be efficiently stored in buffer positions.
Inventors:
HUANG ZHUOYI (US)
DE BEER JACOBUS (US)
SCHULZ-TRIEGLAFF OLE BENJAMIN (GB)
BIRNBAUM ADAM (US)
MONTAÑO BERNARDO OCHOA (GB)
DE BEER JACOBUS (US)
SCHULZ-TRIEGLAFF OLE BENJAMIN (GB)
BIRNBAUM ADAM (US)
MONTAÑO BERNARDO OCHOA (GB)
Application Number:
PCT/US2022/053036
Publication Date:
July 27, 2023
Filing Date:
December 15, 2022
Export Citation:
Assignee:
ILLUMINA SOFTWARE INC (US)
ILLUMINA CAMBRIDGE LTD (GB)
ILLUMINA CAMBRIDGE LTD (GB)
International Classes:
G16B20/20; G16B30/10; G16B50/30; G16B50/50
Domestic Patent References:
| WO2016122318A1 | 2016-08-04 |
Foreign References:
| EP3465507B1 | 2021-09-15 | |||
| US20210183468A1 | 2021-06-17 | |||
| US20200051665A1 | 2020-02-13 |
Attorney, Agent or Firm:
PEDDLE, Ryan A. (US)
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