NEW YORK, Jan 16 – Sequenom and the National Cancer Institute report finding 3,148 new SNPs using the Massarray system and Sequenom’s high-throughput SNP assays in a study published Tuesday in the Proceedings of the National Academy of Sciences .
" This work has generated the largest collection of validated gene-based SNPs described to date," Andi Braun, head of the company's genomics business unit, said in a statement. The study “provides a collection of assays of immediate utility to the human genetics community in the rush to improve understanding of the genetic basis of disease.”
In the study, entitled " High throughput development and characterization of a genome-wide collection of gene-based SNP markers by chip-based MALDI-TOF mass spectrometry," Sequenom collaborated with the NCI’s Laboratory of Population Genetics to analyze SNPs in 94 subjects. They performed over 9,000 assays using Sequenom’s method of pooling DNA samples to allow simultaneous analysis of SNPs in many individuals at a time.
These study results add a new body of data to Sequenom’s portfolio of over 400,000 SNP assays, the company said.
Sequenom is currently collaborating with the NCI to analyze 10,000 more SNPs, and is working with Incyte, the University of Texas Southwestern, and Gemini Genomics on other SNP validation studies.