IP Library Granted Patent US 9,546,399
Granted Patent B2
US 9,546,399 · App. 14/540,917 · Granted Jan 17, 2017

Compositions and methods for identification of a duplicate sequencing read

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Quick Facts
Patent No.
US 9,546,399
App. No.
14/540,917
Granted
Jan 17, 2017
Kind
B2
Abstract

The present invention provides methods, compositions and kits for detecting duplicate sequencing reads. In some embodiments, the duplicate sequencing reads are removed.

Claims (40)

1. A method for detecting a duplicate sequencing read from a population of sample sequencing reads comprising:

a) ligating an adaptor to a 5′ end of each nucleic acid fragment of a plurality of nucleic acid fragments from one or more samples, wherein the adaptor comprises:

(i) an indexing primer binding site;

(ii) an indexing site;

(iii) an identifier site consisting of between 1 and 8 nucleotides; and

(iv) a target sequence primer binding site;

b) amplifying the adapter-nucleic acid fragment ligated products;

c) generating a population of sequencing reads from amplified adapter-nucleic acid fragment ligated products; and

d) identifying a duplicate sequencing read as the sequencing read comprising the same identifier site and nucleic acid fragment as another sequencing read in the population of sequencing reads;

wherein the indexing site is unique amongst a subset of the plurality of nucleic acid fragments and is an index for multiple polynucleotides; and wherein the sequence of the identifier site is variable in sequence content in a plurality of adaptors.

2. The method of claim 1 , wherein the method further comprises removing from the population of sequence reads the sequencing read with a duplicate identifier site and target sequence.

3. The method of claim 1 , wherein the identifier site is sequenced with the indexing site.

4. The method of claim 1 , wherein the adaptor comprises from 5′ to 3′:

(i) the indexing primer binding site;

(ii) the indexing site;

(iii) the identifier site; and

(iv) the target sequence primer binding site.

5. The method of claim 1 , wherein the plurality of nucleic acid fragments is generated from more than one sample.

6. The method of claim 5 , wherein the nucleic acid fragments from each sample have the same indexing site, and each sample has a unique indexing site.

7. The method of claim 6 , wherein the sequencing reads are separated based on the indexing site.

8. The method of claim 7 , wherein the separation of sequencing reads is performed prior to step d).

9. The method of claim 1 , wherein the nucleic acid fragments are DNA fragments, RNA fragments, or DNA/RNA fragments.

10. The method of claim 9 , wherein the nucleic acid fragments are genomic DNA fragments or cDNA fragments.

11. The method of claim 1 , wherein the indexing site is between 2 and 8 nucleotides in length.

12. The method of claim 1 , wherein the indexing site is about 6 nucleotides in length.

13. The method of claim 1 , wherein the identifier site is 6 nucleotides in length.

14. The method of claim 1 , wherein the identifier site is 8 nucleotides in length.

15. The method of claim 1 , wherein the indexing primer binding site is a universal indexing primer binding site.

16. The method of claim 1 , wherein the target sequence primer binding site is a universal target sequence primer binding site.

17. The method of claim 6 , wherein the method further comprises separating fragments or sequencing reads based on indexing site.

18. A method for detecting a duplicate sequencing read from a population of sample sequencing reads comprising:

a) ligating an adaptor to a 5′ end of each nucleic acid fragment of a plurality of nucleic acid fragments from one or more samples, wherein the adaptor comprises:

(i) an indexing primer binding site;

(ii) an indexing site;

(iii) an identifier site consisting of between 1 and 8 nucleotides; and

(iv) a target sequence primer binding site;

b) amplifying the adapter-nucleic acid fragment ligated products;

c) generating a population of sequencing reads from amplified adapter-nucleic acid fragment ligated products; and

d) identifying a duplicate sequencing read as the sequencing read comprising the same identifier site and nucleic acid fragment as another sequencing read in the population of sequencing reads;

wherein the indexing site is unique amongst a subset of the plurality of nucleic acid fragments and is an index for multiple polynucleotides; and wherein the sequence of the identifier site is not variable in sequence content in a plurality of adaptors.

Assignments (4)
CHANGE OF NAME Recorded Sep 14, 2023
From: NUGEN TECHNOLOGIES, INC.
To: TECAN GENOMICS, INC.
Reel/Frame 064899/0469 →
RELEASE OF SECURITY INTEREST Recorded Aug 31, 2023
From: OXFORD FINANCE LLC, AS COLLATERAL AGENT
To: NUGEN TECHNOLOGIES, INC.
Reel/Frame 064765/0664 →
SECURITY INTEREST Recorded Nov 23, 2016
From: NUGEN TECHNOLOGIES, INC.
To: OXFORD FINANCE LLC, AS COLLATERAL AGENT
Reel/Frame 040406/0765 →
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 30, 2014
From: AMORESE, DOUGLAS; SCHROEDER, BEN; SCOLNICK, JONATHAN
To: NUGEN TECHNOLOGIES, INC.
Reel/Frame 034604/0190 →