IP Library Granted Patent US 11,783,919
Granted Patent B2
US 11,783,919 · App. 17/450,417 · Granted Oct 10, 2023

Formatting and storage of genetic markers

Inventors: Tulasi Krishna Paradarami (San Ramon, CA); Michael Polcari (San Francisco, CA); Yeshwanth Bashyam Balachander (Sunnyvale, CA); Matthew Bryan Corley (Redwood City, CA); Anuved Verma (San Jose, CA); Anja Bog (Mountain View, CA); Cordell T. Blakkan (San Francisco, CA); Dmitry Stupakov (Moraga, CA)
Assignee: 23andMe, Inc.
G16B50/30G16B20/00G16B50/00G16H50/20G16H50/30
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Quick Facts
Patent No.
US 11,783,919
App. No.
17/450,417
Granted
Oct 10, 2023
Kind
B2
Abstract

The disclosed embodiments concern methods, apparatus, systems, and computer program products for storing and retrieving genetic data for individuals. In some implementations, a storage format is provided that allows genetic data to be defined by metadata for reproduce-ability.

Claims (49)

1. A method of providing information from one or more files to a database having a table with at least about 20 million columns, the method comprising:

receiving, by a processor from a storage device, one or more Variant Call Format (VCF) or Binary Variant Call Format (BCF) files comprising imputed genetic data for one or more individuals, wherein the imputed genetic data is in a columnar format, wherein the imputed genetic data includes greater than about 20 million markers for each of the one or more individuals, and wherein the greater than about 20 million markers are in sequential order;

transposing, by the processor, the imputed genetic data from the one or more VCF or BCF files for each of the one or more individuals from columnar format to a plurality of rows, wherein the imputed genetic data for each of the one or more individuals is included in a row for the corresponding individuals; and

sending, by the processor, the transposed imputed genetic data to the storage device to be stored in the database with a unique column corresponding to each of the greater than about 20 million markers for each of the one or more individuals and a unique row for each of the one or more individuals.

2. The method of claim 1 , wherein the imputed genetic data includes greater than about 50 million markers for each of the one or more individuals.

3. The method of claim 1 , wherein the storage device comprises a magnetic tape, a flash memory, a PC-CARD, a portable mass storage device, a holographic storage device, a hard disk drive, a hard disk, a floppy disk, a magnetic tape, an optical media, a magneto-optical media, an application-specific integrated circuit (ASIC), a programmable logic device (PLD), a read-only memory (ROM), or a random-access memory (RAM).

4. The method of claim 1 , wherein the storage device comprises a cloud server.

5. The method of claim 4 , wherein sending the transposed imputed genetic data to the storage device comprises outputting information to the storage device via a network interface.

6. The method of claim 1 , wherein the database includes greater than about 10 million individuals and greater than about 10 million rows.

7. The method of claim 1 , wherein the database includes greater than about 10 million individuals and greater than about 20 million rows.

8. The method of claim 1 , wherein the database includes greater than about 10 million individuals and greater than about 30 million rows.

9. The method of claim 1 , further comprising:

accessing, by the processor, a row of user data for an individual; and

generating, by the processor, user facing content for the individual based on the accessed user data.

10. The method of claim 1 , further comprising:

accessing, by the processor, the database to identify genetic data for a plurality of the one or more individuals having one or more preselected phenotypes;

assembling, by the processor, a cases cohort comprising a first plurality of individuals having the one or more preselected phenotypes;

assembling, by the processor, a control cohort comprising a second plurality of individuals not in the cases cohort; and

performing, by the processor, a genome wide association study (GWAS) based on the genetic data from the database for individuals in the cases cohort and control cohort.

11. The method of claim 1 , further comprising, prior to receiving one or more VCF or BCF files:

imputing, by the processor, the genetic data of the one or more individuals; and

sending, by the processor, the imputed genetic data to the storage device to be stored in the one or more VCF or BCF files.

12. The method of claim 11 , wherein sending the imputed genetic data in the one or more VCF or BCF files is done in one or more batches.

13. The method of claim 1 , wherein sending the transposed imputed genetic data to the storage device to be stored in the database is done in one or more batches.

14. The method of claim 1 , further comprising:

generating, by the processor, metadata based on an imputation process used to generate the imputed genetic data, including an imputation panel version used for the imputation process; and

storing, by the processor, the metadata.

15. The method of claim 1 , further comprising:

storing, by the processor, metadata based on the receiving, transposing, and sending steps; and

sending, by the processor, the metadata to the storage device to be stored in the database.

16. The method of claim 1 , wherein the database includes a plurality of tables having dimensions of at least about 1 million×1 million.

17. The method of claim 1 , further comprising:

receiving, by the processor, a request from a user to delete the user's genetic data; and

responsive to the request from the user, updating, by the processor, metadata for the corresponding user's genetic data so that the user's genetic data is not used in future data processing activities.

18. The method of claim 1 , further comprising:

receiving, by the processor, a request from a user to delete the user's genetic data; and

responsive to the request from the user, deleting or nulling, by the processor, the imputed genetic data for the corresponding user's data.

19. A system configured to provide information from one or more files to a database having a table with at least about 20 million columns, the system comprising:

a processor; and

a storage device,

wherein the system is configured to:

receive, by the processor from the storage device, one or more Variant Call Format (VCF) or Binary Variant Call Format (BCF) files comprising imputed genetic data for one or more individuals, wherein the imputed genetic data is in a columnar format, wherein the imputed genetic data includes greater than about 20 million markers for each of the one or more individuals, and wherein the greater than about 20 million markers are in sequential order;

transpose, by the processor, the imputed genetic data from the one or more VCF or BCF files for each of the one or more individuals from columnar format to a plurality of rows, wherein the imputed genetic data for each of the one or more individuals is included in a row for the corresponding individuals; and

send, by the processor, the transposed imputed genetic data to the storage device to be stored in the database with a unique column corresponding to each of the greater than about 20 million markers for each of the one or more individuals and a unique row for each of the one or more individuals.

20. The system of claim 19 , wherein the imputed genetic data includes greater than about 50 million markers for each of the one or more individuals.

21. The system of claim 19 , wherein the storage device comprises a magnetic tape, a flash memory, a PC-CARD, a portable mass storage device, a holographic storage device, a hard disk drive, a hard disk, a floppy disk, a magnetic tape, an optical media, a magneto-optical media, an application-specific integrated circuit (ASIC), a programmable logic device (PLD), a read-only memory (ROM), or a random-access memory (RAM).

22. The system of claim 19 , wherein the storage device comprises a cloud server.

23. The system of claim 22 , wherein the system further comprises a network interface, and wherein sending the transposed imputed genetic data to the storage device comprises outputting information to the storage device via the network interface.

24. The system of claim 19 , wherein the database includes greater than about 10 million individuals and greater than about 10 million rows.

Assignments (5)
CORRECTIVE ASSIGNMENT TO CORRECT THE APP. NO. 63806415 TO 63806145 AND APPL NO. 17721779 TO 17731779 PREVIOUSLY RECORDED ON REEL 73168 FRAME 531. ASSIGNOR(S) HEREBY CONFIRMS THE CHANGE OF NAME. Recorded Jan 6, 2026
From: 23ANDME PGS LLC
To: 23ANDME GENOMICS LLC
Reel/Frame 074434/0334 →
CHANGE OF NAME Recorded Oct 22, 2025
From: 23ANDME PGS LLC
To: 23ANDME GENOMICS LLC
Reel/Frame 073168/0531 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Aug 26, 2025
From: 23ANDME, INC.
To: 23ANDME PGS LLC
Reel/Frame 072562/0795 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Feb 27, 2023
From: STUPAKOV, DMITRY
To: 23ANDME, INC.
Reel/Frame 062811/0873 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Nov 2, 2021
From: PARADARAMI, TULASI KRISHNA; POLCARI, MICHAEL; BALACHANDER, YESHWANTH BASHYAM; CORLEY, MATTHEW BRYAN; VERMA, ANUVED; BOG, ANJA; BLAKKAN, CORDELL T.
To: 23ANDME, INC.
Reel/Frame 057996/0588 →
Continuity (2)
Provisional Application 63198315 · Oct 9, 2020
Related Publication 20220115139A1 · Apr 14, 2022