Sequenom Genotyping

Overview

Sequenom MassARRAY genotyping is a mass spectrometry-based platform for high-throughput genotyping of specific variants. It uses matrix-assisted laser desorption/ionization time-of-flight (MALDI-TOF) mass spectrometry to distinguish alleles and is commonly used for validation of somatic mutations identified by discovery sequencing.

Used by

  • Used to extend somatic mutation genotyping from a 47-sample targeted resequencing discovery cohort to 160 additional sarcoma tumors across seven subtypes, validating mutations in PIK3CA, NF1, TP53, KIT, and PDGFRA PMID:20601955.
  • iPLEX Sequenom MassARRAY used to genotype 22 oncogene hotspots in 156 prostate tumors from the MSKCC prad_mskcc cohort PMID:20579941
  • Used for targeted mutation genotyping across 947 CCLE cancer cell lines to complement WES and expression data PMID:22460905
  • Sequenom genotyping used for targeted mutation validation in prostate adenocarcinoma WES study PMID:22610119
  • Sequenom mass spectrometric genotyping used to validate RAC1 P29S, PPP6C, and STK19 hotspot mutations in extension sets of n=59, n=63, and n=175 melanoma samples (Broad cohort) PMID:22817889
  • Sequenom mass-spectrometry genotyping used to validate 25 randomly selected AA>C transversion mutation calls from WGS of esophageal adenocarcinomas; 100% concordance confirmed PMID:23525077
  • Used for KRAS mutation genotyping in colorectal cancer patient samples PMID:23897969
  • Mass-spectrometry genotyping used for orthogonal SNV validation in nccRCC WES study; confirmed 92% (164/178) of selected SNVs PMID:25401301
  • Custom Sequenom SNP genotyping panel (alongside AmpFISTR Identifiler) used for patient-identity QC across the four sequencing centers in the TCGA esophageal/stomach study PMID:28052061.

Notes

  • PIK3CA mutation prevalence in myxoid/round-cell liposarcoma was extended from 4/21 (discovery) to 13/71 (18%) after Sequenom validation in an additional 50-patient cohort PMID:20601955.

Sources

This page was processed by entity-page-writer on 2026-05-11. - PMID:20579941

This page was processed by entity-page-writer on 2026-05-11. - PMID:22460905

This page was processed by entity-page-writer on 2026-05-11. - PMID:22610119

This page was processed by entity-page-writer on 2026-05-11. - PMID:22817889

This page was processed by entity-page-writer on 2026-05-11. - PMID:23525077

This page was processed by entity-page-writer on 2026-05-11. - PMID:23897969

This page was processed by entity-page-writer on 2026-05-11. - PMID:25401301

This page was processed by entity-page-writer on 2026-05-11. - PMID:28052061

This page was processed by wiki-cli on 2026-05-14.