US2023124077A1PendingUtilityA1

Methods and systems for anonymizing genome segments and sequences and associated information

Assignee: HUANG ETHANPriority: May 11, 2017Filed: Aug 30, 2022Published: Apr 20, 2023
Est. expiryMay 11, 2037(~10.8 yrs left)· nominal 20-yr term from priority
Inventors:Ethan Huang
G16B 50/00G16B 50/50G06F 21/6254G16B 50/30
67
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Claims

Abstract

Various methods and systems for processing at least some of genome sequences and at least some of associated information, for an individual, may include one or more of: segmenting genome sequences for at least a purpose of anonymizing genome information; using anchor segments for a purpose of minimizing electronic storage space in storing of genetic sequence information; generating at least one linkage record; generating at least one anonymized linkage record; processing a request for genetic study results; processing genetic study results received; and/or generating personalized information of interest pertaining to the individual. A purpose of such processing may be to prevent, minimize, and/or mitigate against ( 1 ) identification of the individual from such genome sequence information and/or from associated information; and/or ( 2 ) using such genome sequence information and/or associated information as a basis for discriminating against the individual.

Claims

exact text as granted — not AI-modified
What is claimed is: 
     
         1 . A method for processing genetic study results, wherein the method comprises steps of:
 (a) receiving at least one result; wherein the at least one result once received is at least one received result; wherein the at least one received result comprises results-information;   (b) cataloging the results-information into cataloged-results-information; and   (c) non-transitorily storing the cataloged-results-information in one or more databases, repositories, or storage units.   
     
     
         2 . The method according to  claim 1 , wherein the results-information comprises one or more of:
 at least one genome sequence from at least one individual, at least one segment of the at least one individual, at least one marked allele of the at least one individual, or information-of-interest.   
     
     
         3 . The method according to  claim 2 , wherein the information-of-interest comprises one or more of: associated information, phenotype information, medical record information, personal information, a disease of interest, a genetic condition of interest, treatment results of interest per the at least one individual, or results of a given genetic study. 
     
     
         4 . The method according to  claim 3 , wherein the at least one result comprises a plurality of results of a plurality of individuals. 
     
     
         5 . The method according to  claim 2 , wherein the at least one genome sequence is selected from one or more of: one or more genome sequences, one or more segments of nucleic acid sequences derived from the one or more genome sequences, modified-genome-sequences derived from the one or more genome sequences, or modified-segments derived from the one or more segments of nucleic acid sequences. 
     
     
         6 . The method according to  claim 2 , wherein the at least one genome sequence from the at least one individual or the at least one segment of the at least one individual is marked at at least one locus; wherein this marking of the at least one locus indicates that one or more of a disease of interest, a genetic condition of interest, or a phenotype of interest associates with the at least one locus. 
     
     
         7 . The method according to  claim 2 , wherein after the step of receiving the at least one result, but before the step of cataloging the results-information, the method further comprises a step of associating the at least one marked allele with at least one relevant segment; wherein the at least one relevant segment is relevant if the at least one segment comprises an allele or some nucleic acid sequence that matches the at least one marked allele. 
     
     
         8 . The method according to  claim 7 , wherein the step of associating comprises marking the at least one relevant segment at at least one locus on the at least one relevant segment that indicates a location of the allele or of the some nucleic acid sequence on the at least one relevant segment that matches the at least one marked allele. 
     
     
         9 . The method according to  claim 8 , wherein the marking of the at least one relevant segment is facilitated by using an align sequence to align the at least one marked allele with the at least one relevant segment. 
     
     
         10 . The method according to  claim 9 , wherein the align segment and the at least one relevant segment are the same segment. 
     
     
         11 . The method according to  claim 1 , wherein the step of cataloging the results-information further comprises scanning the results-information for information that compromises anonymity of at least one individual. 
     
     
         12 . The method according to  claim 11 , wherein if at least some of the information scanned reveals an anonymity problem, then the method proceeds to anonymize the at least some of the information. 
     
     
         13 . The method according to  claim 1 , periodically, after the step of non-transitorily storing the cataloged-results-information, the method further comprises scanning the cataloged-results-information for information that comprises anonymity of at least one individual. 
     
     
         14 . The method according to  claim 13 , wherein if at least some of the information scanned reveals an anonymity problem, then the method proceeds to anonymize the at least some of the information. 
     
     
         15 . The method according to  claim 1 , wherein after receiving the at least one result, but before the step of non-transitory storing, the method checks the results-information for anonymity, and if the results-information are not anonymous then the method one or more of anonymizes the results-information producing anonymized results-information and then proceeds with the step of step of non-transitory storing, or sends a warning of a lack of anonymity in the results-information; and if the results-information is anonymized then the method proceeds with the step of non-transitory storing. 
     
     
         16 . The method according to  claim 15 , wherein checking if the results-information are anonymous comprises analyzing the results-information to determine if any given individual is identifiable from the results-information. 
     
     
         17 . The method according to  claim 14 , wherein anonymizing the at least some of the information comprises creating an anonymized linkage record from the results-information. 
     
     
         18 . The method according to  claim 14 , wherein anonymizing the at least some of the information comprises one or more of: modifying one or more genome sequences into modified-genome-sequences, modifying one or more segments into modified-segments, modifying organizational units into modified-organizational units, dividing fields into subfields, generalizing fields into subfields, categorizing fields into categories, modifying subfields into modified-subfields, modifying categories into modified-categories, or modifying different-subfields into modified-different-subfields. 
     
     
         19 . The method according to  claim 18 , wherein the modifying of the one or more genome sequences or of the one or more segments is done by one or more of: deleting, inserting, appending, or replacing one or more nucleotides, or by using a nucleotide nomenclature system to specify sequences of nucleotides. 
     
     
         20 . The method according to  claim 18 , wherein the modifying of the one or more of the organizational units, the subfields, the categories, or the different subfields is done by one or more of: deleting, inserting, appending, or replacing some of the data in the results-information.

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