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US 11,386,979 B2Granted
Method and system for storing and accessing bioinformatics data
AssigneeGenomsys SA
InventorsDaniele Renzi, Giorgio Zoia
Life of this patent
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Abstract
Method and system for storing and accessing genomic data. Genomic sequencing data are partitioned into access units of different types based on the predictability of the contained data. Access units are classified in different types and the structuring enables selective access and selective processing of genomic data.
Claims22
A method of compression of genomic data mapped to a reference sequence comprising partitioning a file of genomic data into data unit of different types,
- wherein said partitioning is such that
- data units of a first type contain genomic data, said genomic data being a portion of a reference sequence used to map the encoded data, and positional data indicating the absolute position of the first nucleotide of said portion of the reference sequence, wherein said genomic data do not refer to data units of any other type,
- data units of a second type comprise genomic data classified according to the mapping on the reference genome and structured in layers of homogeneous data, the data units of the second type also contain information related to positional data indicating the position of the reads perfectly matching the part of sequence contained in the data unit of a first type, and reverse complement information with respect to the genomic information contained in the data unit of a first type, and
- wherein
- said positional data in the data units of the second type are stored such that the mapping position of the first read is stored as absolute position and all the other positions are expressed as a difference with respect to the previous position and stored in a specific layer, and
- said positional data and reverse complement data are structured in respective different layers of homogeneous data and are compressed by applying a specific compression algorithm.
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Dependencies are inferred from the claim text.