Skip to main content
Premium Trial:

Request an Annual Quote

Sequenom and NCI Publish Discovery of over 3,000 New SNPs

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.

The Scan

Expanded Genetic Testing Uncovers Hereditary Cancer Risk in Significant Subset of Cancer Patients

In Genome Medicine, researchers found pathogenic or likely pathogenic hereditary cancer risk variants in close to 17 percent of the 17,523 patients profiled with expanded germline genetic testing.

Mitochondrial Replacement Therapy Embryos Appear Largely Normal in Single-Cell 'Omics Analyses

Embryos produced with spindle transfer-based mitochondrial replacement had delayed demethylation, but typical aneuploidy and transcriptome features in a PLOS Biology study.

Cancer Patients Report Quality of Life Benefits for Immune Checkpoint Inhibitors

Immune checkpoint inhibitor immunotherapy was linked in JAMA Network Open to enhanced quality of life compared to other treatment types in cancer patients.

Researchers Compare WGS, Exome Sequencing-Based Mendelian Disease Diagnosis

Investigators find a diagnostic edge for whole-genome sequencing, while highlighting the cost advantages and improving diagnostic rate of exome sequencing in EJHG.