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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Updated: May 27, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Genotyping with Sequenom.

Martina Bradić¹, João Costa, Ivo M Chelo

¹Department of Biology, New York University, New York, NY, USA. mb3188@nyu.edu

Methods in Molecular Biology (Clifton, N.J.)

|November 9, 2011

Summary

Custom genotyping assays are essential for evolutionary genetics when high-throughput arrays are unavailable. Sequenom

Area of Science:

Evolutionary Genetics
Genotyping Technologies
Population Variation Analysis

Background:

High-throughput arrays are often unavailable for non-model organisms or uniquely adapted populations.
Analyzing genetic polymorphisms in such populations requires custom genotyping solutions.

Purpose of the Study:

To introduce and evaluate Sequenom's MassARRAY platform for custom genotyping.
To demonstrate its utility in analyzing population polymorphisms.

Main Methods:

Utilized Sequenom's MassARRAY platform for genotyping.
Employed allele-specific primer extension and mass spectrometry (MALDI-TOF).
Adapted established PCR protocols for multiplexing multiple markers.

Main Results:

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gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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The MassARRAY platform enables assaying thousands of markers across thousands of individuals.
Multiplexing allows simultaneous amplification and detection of multiple markers per reaction.
The method is powerful and flexible for custom genotyping needs.

Conclusions:

Sequenom's MassARRAY platform provides a cost-effective and flexible solution for custom genotyping.
It is suitable for evolutionary genetics research on populations lacking standard high-throughput arrays.
The platform facilitates detailed analysis of population genetic variation.