Granted Patent B2

US 7,657,383 · App. 10/856,600 · Granted Feb 2, 2010

Assignee: International Business Machines Corporation

Abstract

Claims (61)

1. A method of compactly representing and storing a complete subject genome comprising:

programming a computer to carry out the following steps:

constructing a base reference genome for a species, wherein said base reference genome is a benchmark or model genome for the species;

providing the subject genome, said subject genome being a genome of a member of the species;

retrieving the base reference genome;

comparing the subject genome to the base reference genome;

identifying all differences between the subject genome and the base reference genome;

assigning one or more items of descriptive information to each of the differences, wherein each of said items of descriptive information describes a particular deviation of the subject genome from the base reference genome resulting in each of said differences;

compiling the items of descriptive information describing all the differences between the subject genome and the base reference genome into a data set, wherein the data set represents the complete subject genome, and wherein the data set does not include data other than the items of descriptive information describing each difference between the subject genome and the base reference genome; and

storing the data set representing the complete subject genome on a machine readable storage; and

using the stored data set for genetic research or medical treatment.

2. The method of claim 1 , wherein the difference is a nucleotide in the subject genome that is not in the base reference genome or is a nucleotide that is not in the subject genome that is in the base reference genome.

3. The method of claim 1 , wherein the difference is a nucleotide sequence contained in both the subject genome and the base reference genome but which is situated in different locations.

4. The method of claim 1 , wherein the difference is a single nucleotide polymorphism.

5. The method of claim 1 , wherein the difference is a discrepancy in the repeat count of a micro-satellite between the subject genome and the base reference genome.

6. The method of claim 1 , said step of assigning an item of descriptive information further comprising:

identifying a position reference point in the base reference genome;

locating a corresponding position reference point in the subject genome; and

assigning a description to the difference.

7. The method of claim 6 , wherein the position reference point is a gene marker.

8. The method of claims 6 , wherein the position reference point is a micro-satellite marker.

9. The method of claim 6 , further comprising:

comparing portions of DNA around the position reference point;

locating a starting point of the difference;

determining an ending point of the difference; and

calculating one or more offset values based on the starting and ending points.

10. A system for compactly representing and storing a complete subject genome comprising:

a computer programmed to:

construct a base reference genome for a species, wherein said base reference genome is a benchmark or model genome for the species;

obtain the subject genome, said subject genome being a genome of a member of the species;

retrieve the base reference genome;

compare the subject genome to the base reference genome;

identify all differences between the subject genome and the base reference genome;

assign one or more items of descriptive information to each of the differences, wherein each of said items of descriptive information describes a particular deviation of the subject genome from the base reference genome resulting in each of said differences;

compile the items of descriptive information describing all the differences between the subject genome and the base reference genome into a data set,

wherein the data set represents the complete subject genome and wherein the data set does not include data other than the items of descriptive information describing each difference between the subject genome and the base reference genome; and

store the data set representing the complete subject genome on a machine readable storage, wherein the stored data set is used for genetic research or medical treatment.

11. A machine readable storage, having stored thereon a computer program having a plurality of code sections executable by a machine for causing the machine to perform the steps of:

constructing a base reference genome for a species, wherein said base reference genome is a benchmark or model genome for the species;

providing the subject genome, said subject genome being a genome of a member of the species;

retrieving the base reference genome;

comparing the subject genome to the base reference genome;

identifying all differences between the subject genome and the base reference genome;

assigning one or more items of descriptive information to each of the differences, wherein each of said items of descriptive information describes a particular deviation of the subject genome from the base reference genome resulting in each of said differences;

compiling the items of descriptive information describing all the differences between the subject genome and the base reference genome into a data set, wherein the data set represents the complete subject genome, and wherein the data set does not include data other than the items of descriptive information describing each difference between the subject genome and the base reference genome; and

storing the data set representing the complete subject genome on a machine readable storage, wherein the stored data set is used for genetic research or medical treatment.

12. The machine readable storage of claim 11 , wherein the difference is a nucleotide in the subject genome that is not in the base reference genome or a nucleotide that is not in the subject genome that is in the base reference genome.

13. The machine readable storage of claim 11 , wherein the difference is a nucleotide sequence contained in both the subject genome and the base reference genome but which is situated in different locations.

14. The machine readable storage of claim 11 , wherein the difference is a single nucleotide polymorphism.

15. The machine readable storage of claim 11 , wherein the difference is a discrepancy in the repeat count of a micro-satellite between the subject genome and the base reference genome.

16. The machine readable storage of claim 11 , said step of assigning one or more items of descriptive information further comprising:

identifying a position reference point in the base reference genome;

locating a corresponding position reference point in the subject genome; and

assigning a text description to the difference.

17. The machine readable storage of claim 16 , wherein the position reference point is a gene marker.

18. The machine readable storage of claim 16 , wherein the position reference point is a micro-satellite marker.

19. The machine readable storage of claim 16 , further comprising:

comparing portions of DNA around the position reference point;

locating a starting point of the difference;

determining an ending point of the difference; and

calculating one or more offset values based on the starting and ending points.

Assignments (8)

Continuity (1)