19252504
This reference describes SNPSeeker.
| PMID | PMID 19252504 |
|---|---|
| Title | Quantification of rare allelic variants from pooled genomic DNA. |
| Year | 2009 |
| Journal | Nature Methods |
| Author | Druley TE, Vallania FL, Wegner DJ, Varley KE, Knowles OL, Bonds JA, Robison SW, Doniger SW, Hamvas A, Cole FS, Fay JC, Mitra RD. |
| Volume | 6 |
| Start page |
Error: No contents found at URL http://www.ebi.ac.uk/europepmc/webservices/rest/MED/19252504/citations/4000.
According to Europe PubMed Central, this reference has Error: no local variable "citations" was set. " Error: no local variable "citations" was set. " is not a number. citations.
For reference, you can check Google Scholar, which lacks an API because Google ...
Error: Invalid JSON. According to Almetric, this reference has an Altmetric score of Error: no local variable "altscore" was set. " Error: no local variable "altscore" was set. " is not a number..
Full text description
We report a targeted, cost-effective method to quantify rare single-nucleotide polymorphisms from pooled human genomic DNA using second-generation sequencing. We pooled DNA from 1,111 individuals and targeted four genes to identify rare germline variants. Our base-calling algorithm, SNPSeeker, derived from large deviation theory, detected single-nucleotide polymorphisms present at frequencies below the raw error rate of the sequencing platform.
