Sequencing methods

Patent metadata

Field	Value
Publication number	US-12249402-B2
Application number	US-202318198763-A
Country	US
Kind code	B2
Filing date	May 17, 2023
Priority date	Aug 30, 2013
Publication date	Mar 11, 2025
Grant date	Mar 11, 2025

Abstract

The invention described herein solves challenges in providing a proficient, rapid and meaningful analysis of sequencing data. Methods and computer program products of the invention allow for a system to receive, analyze, and display sequencing data in real-time. The invention provides solutions to several difficulties encountered in assembling short sequencing-reads, and by doing so the invention improves the worth and significance of sequencing data.

First claim

What is claimed is:

1. A method comprising:
(a) sequencing a plurality of biomolecules and generating a plurality of partial sequence data from the plurality of biomolecules using a sequencer in communication with a remote server;
(b) while the sequencer is sequencing the plurality of biomolecules, receiving, at the remote server, the plurality of partial sequence data, wherein the plurality of partial sequence data is streamed from the sequencer over a network to the remote server; and
(c) while the sequencer is sequencing the plurality of biomolecules, processing the plurality of partial sequence data at the remote server.

2. The method of claim 1 , wherein the plurality of partial sequence data is generated by sequencing-by-synthesis.

3. The method of claim 1 , wherein the processing the plurality of partial sequence data is performed in real time.

4. The method of claim 1 , wherein the processing the plurality of partial sequence data is performed using parallel processing.

5. The method of claim 1 , wherein the plurality of partial sequence data comprises a first partial sequencing read having a first barcode sequence, wherein the processing the plurality of partial sequence data comprises aligning the first partial sequencing read to a reference biomolecule.

6. The method of claim 1 , further comprising determining a statistical parameter for the plurality of partial sequence data.

7. The method of claim 6 , wherein the statistical parameter is a probability of a sequencing error.

8. The method of claim 1 , wherein the plurality of partial sequence data comprises sequence alignment data.

9. The method of claim 1 , wherein the plurality of partial sequence data comprises gene expression data.

10. The method of claim 1 , wherein the plurality of partial sequence data comprises genome annotation data.

11. The method of claim 1 , wherein the plurality of partial sequence data comprises genomic data from one or more cycles of the sequencer.

12. The method of claim 11 , wherein the processing the plurality of partial sequence data is performed during the one or more cycles of the sequencer.

13. The method of claim 1 , wherein the plurality of partial sequence data is stored in a local database.

14. The method of claim 1 , wherein the plurality of partial sequence data is stored in a distributed database.

15. The method of claim 1 , further comprising obtaining the plurality of biomolecules from a biological sample of a subject.

16. The method of claim 1 , wherein the plurality of biomolecules comprises nucleic acid molecules.

17. The method of claim 1 , wherein the plurality of biomolecules comprises one or more proteins.

18. The method of claim 1 , wherein the plurality of biomolecules are from a sample, wherein the sample comprises a tissue sample.

19. A computer program product comprising a computer readable storage medium having program instructions embodied therewith, the program instructions executable by a processor of a remote server in communication with a sequencer configured to sequence a plurality of biomolecules and generate a plurality of partial sequence data from the plurality of biomolecules, wherein the program instructions are configured to cause the processor to perform a method comprising:
(a) while the sequencer is sequencing the plurality of biomolecules, receiving the plurality of partial sequence data, wherein the plurality of partial sequence data is streamed from the sequencer over a network to the processor of the remote server; and
(b) while the sequencer is sequencing the plurality of biomolecules, processing the plurality of partial sequence data.

20. A system comprising
a genomic data database; and
a computing node comprising a computer readable storage medium having program instructions embodied therewith, the program instructions executable by at least one processor of a remote server in communication with a sequencer configured to sequence a plurality of biomolecules and generate a plurality of partial sequence data from the plurality of biomolecules, wherein the program instructions are configured to cause the at least one processor to perform a method comprising:
(a) while the sequencer is sequencing the plurality of biomolecules, receiving the plurality of partial sequence data, wherein the plurality of partial sequence data is streamed from the sequencer over a network to the at least one processor of the remote server and stored in the genomic data database; and
(b) while the sequencer is sequencing the plurality of biomolecules, processing the plurality of partial sequence data.

Assignees

• 10X Genomics Inc

Inventors

• Schnall-Levin Michael
• Jarosz Mirna
• Saxonov Serge
• Ness Kevin
• Hindson Benjamin

Classifications

• G16B30/20

  Sequence assembly · CPC title

• G16B30/00 Primary

  ICT specially adapted for sequence analysis involving nucleotides or amino acids · CPC title

• G16B30/10 Primary

  Sequence alignment; Homology search · CPC title