Organization, visualization and utilization of genomic data on electronic devices

• US 9,384,321 B2
• Filed: 11/23/2011
• Issued: 07/05/2016
• Est. Priority Date: 11/25/2010
• Status: Expired due to Fees

• Current Assignee: Portable Genomics, Inc.
• Original Assignee: Portable Genomics, Inc.
• Inventors: Merel, Patrick
• Primary Examiner(s): Nguyen, Kevin
• Application Number:
  US13/989,737
• Publication Number:
  US 20140033125A1
• Time in Patent Office: 1,686 Days
• Field of Search: 715/700, 715761-765, 715/751, 715851-853
• US Class Current: 1/1
• CPC Class Codes: G06F 3/0482 Interaction with lists of selectable items, e.g. menus
• CPC Class Codes: G06F 3/0485 Scrolling or panning
• CPC Class Codes: G16B 45/00 ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
• CPC Class Codes: G16B 50/00 ICT programming tools or database systems specially adapted for bioinformatics
• CPC Class Codes: G16B 50/10 Ontologies; Annotations

Abstract

Described herein are methods, devices and systems for simple organization, visualization and use of genome data (e.g. human genome data) on electronic devices (e.g. portable devices). In some embodiments, the data are organized and/or visualized according to phenotype traits, genes, and/or markers in a similar manner to the organization and/or visualization of digital music contents. This concept allows a new procedure for genomic data organization and facilitates the development of genomic data visualization tools. The methods described herein can be implemented with consumer-oriented software on electronic devices, computers, and portable devices, for the use of genomic related data in the field of personalized medicine for predictive, preventive and participative wireless healthcare.

Claims

1. A graphical user interface (GUI) for displaying genomic information on a mobile device, the GUI comprising:

(a) a listing of phenotypic traits, diseases, or a combination thereof;

(b) a listing of genes; and

(c) a listing of genetic markers, wherein the genetic markers are single nucleotide polymorphisms (SNPs), micro-satellites, DNA methylation patterns, histone deacetylation patterns, or any combination thereof and wherein the genetic markers comprise metadata comprising;

(1) a default map location;

(2) a nucleotide UID; and

(3) a gene ontology,

whereby selecting a phenotypic trait or disease from list (a) displays a listing of genes and/or genetic markers correlated with the selected phenotypic trait or disease wherein the correlations are obtained from public databases and/or scientific literature and wherein a multimedia database viewable by the GUI is populated with genomic information in place of multimedia information, whereby operation of the GUI displays genomic information.

2. The GUI of claim 1, wherein the metadata further comprises one or more of:

a disease name, a phenotype, a gene name, a protein name, a chromosome, a nucleotide accession, a protein accession, a protein UID, a EC/RN number, a filter, a locus link ID, a MIM, a modification date, a property, a PubMed UID, a taxonomy ID, a text word, and a UniGene cluster number.

3. The GUI of claim 1, wherein the phenotypic traits, diseases, or a combination thereof are represented by images.

4. The GUI of claim 3, wherein the images further comprise genes and/or genetic markers correlated with the phenotypic trait or disease.

5. The GUI of claim 3, wherein the images are scrollable by touching the display of the mobile device with a vertical, horizontal, or circular motion.

6. The GUI of claim 3, wherein the images further comprise an indication when the phenotypic trait or diseases is clinically relevant in an individual.

7. The GUI of claim 6, wherein the indication is a color code.

8. The GUI of claim 1, wherein the genomic information is from an individual person.

9. The GUI of claim 1, wherein the genomic information is obtained from public databases.

10. The GUI of claim 1, wherein:

(a) an album title field is populated with a listing of phenotypic traits, diseases, or a combination thereof;

(b) an artist field is populated with a listing of genes; and

(c) a title track field is populated with a listing of genetic markers,

whereby selecting a phenotypic trait or disease from list (a) displays a listing of genes and/or genetic markers correlated with the selected phenotypic trait or disease.

11. The method GUI of claim 10, wherein the mobile device comprises one or more of:

(a) means for activating an application on the mobile device based on the genomic information; and

(b) means for integrating geolocation information of the mobile device with the genomic information.

12. The GUI of claim 10 wherein the database comprises genes, genetic markers, default map locations, nucleotide UID, and gene ontology information.

13. A portable electronic device configured to display the GUI of claim 1.

14. The portable electronic device of claim 13, wherein the device is a mobile phone, personal digital assistant (PDA), or tablet computer.

15. The portable electronic device of claim 14 comprising means to schedule medical appointments or consult medical specialists.

16. The portable electronic device of claim 14 comprising means to facilitate financial transactions based on genomic information.

17. The electronic device of claim 14 comprising means to predict the efficacy of a drug and/or to predict side-effects of a drug.

18. The portable electronic device of claim 14 comprising geolocation features to determine relative contribution of genetics and environment on a phenotypic trait or disease.

19. The portable electronic device of claim 14 comprising means to determine the probability of phenotypic traits and/or diseases being expressed in the offspring produced by a male and a female individuals.