Compositions and methods for high-throughput nucleic acid analysis and quality control
View Patent ↗Methods for improved quality control of nucleic acid containing biological samples utilized in high-throughput situations such as biorepositories engaged in the collection, processing, storage, distribution and analysis of such samples are disclosed.
1. A method for detecting a collection of genetic markers in a sample, comprising,
providing a sample comprising DNA, wherein the DNA comprises a collection of genetic markers, and wherein the sample is selected from the group consisting of a blood sample, a serum sample, a plasma sample, a lymphoblast cell line (LCL) sample, a cryopreserved lymphocyte (CPL) sample, a cell line, a tissue sample, a frozen tissue sample, a whole genome amplified DNA sample, and a saliva sample,
contacting the sample with a polymerase and a panel of nucleic acid molecules that can detect a collection of genetic markers consisting of SEQ ID NOS: 1-96,
amplifying the DNA in the sample, and
detecting one or more single nucleotide polymorphisms (SNPs) present in said collection of genetic markers, thereby genotyping the sample, wherein detecting SNPs in the collection of genetic markers using the panel of nucleic acid molecules that can detect a collection of genetic markers consisting of SEQ ID NO: 1-96 demonstrates an improved ability to reliably genotype the collection of genetic markers in the sample as compared to other combination of nucleic acid molecules.
2. The method of claim 1 , wherein the nucleic acid molecules that can detect a collection of genetic markers consisting of SEQ ID NOS: 1-96 comprise dual labeled probes, and the polymerase cleaves said dual labeled probes during hybridization to a complementary target sequence present in said sample, wherein the dual labeled probes comprise a fluorophore.
3. The method of claim 2 , wherein said cleavage releases the fluorophore.
4. The method of claim 1 , wherein said detecting is performed using an array comprising the collection of genetic markers consisting of SEQ ID NOS: 1-96.
5. The method of claim 1 , wherein a genotype assignment has been previously determined for the sample, said sample being stored in a biorepository.
6. The method of claim 1 , wherein the DNA is selected from the group consisting of genomic DNA (gDNA), complementary DNA (cDNA), free floating DNA, and recombinant DNA.
7. The method of claim 1 , wherein the sample is a human blood sample.
8. The method of claim 1 , wherein the sample is a human serum sample.
9. The method of claim 1 , wherein the sample is a human plasma sample.
10. The method of claim 1 , wherein the sample is a human saliva sample.
11. The method of claim 1 , wherein the sample is a human tissue sample.
12. The method of claim 1 , wherein the sample is a blood sample.
13. The method of claim 1 , wherein the sample is a serum sample.
14. The method of claim 1 , wherein the sample is a plasma sample.
15. The method of claim 1 , wherein the sample is a saliva sample.
16. The method of claim 1 , wherein the sample is a tissue sample.
17. The method of claim 1 , wherein the amplifying comprises polymerase chain reaction (PCR).
18. The method of claim 15 , wherein the PCR comprises quantitative polymerase chain reaction (QPCR).
19. The method of claim 1 , wherein the detecting comprises sequencing.