Systems and methods for secure genomic analysis using a specialized edge computing device
AssigneeHaystackanalyt Ics Pvt. Ltd.
InventorsAnirvan CHATTERJEE, Priyanku KONAR, Sanchi SHAH, Sanjana KURUWA
Life of this patent
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Abstract
Embodiments herein disclose systems and methods for secure genomic analysis using a specialized edge computing device (10). The edge computing device (10) can access a genomic platform (30) that enables a genomic analysis unit (12) inside the edge computing device (10) to perform genomic analysis of an input sequence data of a sample. The genomic analysis that is performed may be based on a selection by a user of the edge computing device (10). The genomic analysis unit (12/22) outputs a report comprising details of the genomic analysis of the input sequence data.
Claims19
A method (500) for performing a genomic analysis, comprising:
- receiving, by a genomic analysis unit (12/22), a sequenced data of a sample, and an input based on the type of the genomic analysis to be performed on the sequenced data;
- determining, by the genomic analysis unit (12/22), the type of the sample and the type of sequencing that was performed on the sample;
- performing, by the genomic analysis unit (12/22), quality control, assembly or mapping of the sequenced data, upon which data, that is relevant to the genomic analysis type, is obtained and binned;
- comparing, by the genomic analysis unit (12/22), the relevant data with a reference genome to identify one or more variants, upon which a plurality of aberrations are obtained;
- generating, by the genomic analysis unit (12/22), a variant call format file based on the plurality of aberrations;
- and
- annotating, by the genomic analysis unit (12/22), those aberrations, among the plurality of aberrations, that are relevant to the genomic analysis type.
A method (600) for determining the drug resistance of a sample having tuberculosis (TB), comprising:
- receiving, by a genomic analysis unit (12/22), a sequenced data of the TB sample;
- determining, by the genomic analysis unit (12/22), the type sequencing that was performed on the TB sample;
- comparing, by the genomic analysis unit (12/22), the sequenced data with a catalogue of mutations in a TB genome, that are associated with drug resistance, to determine if there is an adequate depth of sequencing across every mutation in the sequenced data;
- and
- analyzing, by the genomic analysis unit (12/22), the drug resistance of the portion of the sequenced data that corresponds to TB (TB data), wherein the analysis is a determination of the drug resistance of the TB in the sample.
A system (100) for performing genomic analysis, comprising:
- a memory storing a plurality of instructions;
- and
- at least one processor (12/22) coupled to the memory, wherein the at least one processor (12/22) is configured to execute the plurality of instructions to perform the following:
- receiving a sequenced data of a sample, and an input based on the type of the genomic analysis to be performed on the sequenced data;
- determining the type of the sample and the type of sequencing that was performed on the sample;
- performing quality control, assembly or mapping of the sequenced data, upon which data, that is relevant to the genomic analysis type, is obtained and binned;
- comparing the relevant data with a reference genome to identify one or more variants, upon which a plurality of aberrations are obtained;
- generating a variant call format file based on the plurality of aberrations;
- and
- annotating those aberrations, among the plurality of aberrations, that are relevant to the genomic analysis type.
A system (100) for determining drug resistance of a sample including tuberculosis (TB), comprising:
- a memory storing a plurality of instructions;
- and
- at least one processor (12/22) coupled to the memory, wherein the at least one processor (12/22) is configured to execute the plurality of instructions to perform the following:
- receiving, by a genomic analysis unit (12/22), a sequenced data of the TB sample;
- determining, by the genomic analysis unit (12/22), the type sequencing that was performed on the TB sample;
- comparing, by the genomic analysis unit (12/22), the sequenced data with a catalogue of mutations in a TB genome, that are associated with drug resistance, to determine if there is an adequate depth of sequencing across every mutation in the sequenced data;
- and
- analyzing, by the genomic analysis unit (12/22), the drug resistance of the portion of the sequenced data that corresponds to TB (TB data), wherein the analysis is a determination of the drug resistance of the TB in the sample.
Dependencies are inferred from the claim text.