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Genome-wide Association Studies-GWAS

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...

Evolutionary Relationships through Genome Comparisons

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Genetic Material

Genetic Material

Within the human body, a complex and detailed system of trillions of cells works in unison to sustain life. Each cell houses a nucleus, which contains 46 chromosomes divided into 23 pairs. Chromosomes are highly coiled structures made of the genetic material DNA. These chromosomes are essential carriers of genetic information, with half inherited from the mother through her egg and the other half from the father's sperm, combining to create the unique genetic makeup of an individual.

Genomics

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

Genomic DNA in Eukaryotes

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.

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Related Experiment Video

Updated: Dec 14, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Optimized homomorphic encryption solution for secure genome-wide association studies.

Marcelo Blatt¹, Alexander Gusev^1,2, Yuriy Polyakov³

¹Duality Technologies, Inc., Newark, NJ, USA.

BMC Medical Genomics

|July 23, 2020

Summary

This summary is machine-generated.

This study introduces secure Genome-Wide Association Studies (GWAS) using homomorphic encryption (HE). This approach protects individual genetic data privacy while enabling efficient disease-associated variant discovery.

Keywords:

Cryptography Genome-wide association studies Homomorphic encryption

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Last Updated: Dec 14, 2025

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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Published on: November 3, 2010

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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

Area of Science:

Genomics
Bioinformatics
Cryptography

Background:

Genome-Wide Association Studies (GWAS) identify genetic variants linked to traits but raise privacy concerns due to data requirements.
Traditional GWAS involve logistic regression of phenotypes on single-nucleotide polymorphisms (SNPs).
The reliance on individual-level genotype and phenotype data is a significant limitation.

Purpose of the Study:

To develop a secure method for conducting GWAS that preserves individual data privacy.
To enable genetic association studies without compromising sensitive information.

Main Methods:

Utilizing homomorphic encryption (HE) to keep all individual data encrypted throughout the GWAS process.
Implementing an optimized semi-parallel GWAS compute model.
Employing a novel Residue-Number-System (RNS) variant of the Cheon-Kim-Kim-Song (CKKS) HE scheme and advanced crypto-engineering techniques.

Main Results:

A prototype successfully completed a full GWAS for 1,000 individuals and 131,071 SNPs in approximately 10 minutes.
The secure GWAS solution achieved co-first place in the iDASH'18 Track 2 competition.
Demonstrated the feasibility of privacy-preserving GWAS on a substantial scale.

Conclusions:

The developed HE-based GWAS solution effectively addresses privacy concerns associated with traditional methods.
The presented HE optimizations are generalizable and applicable to other domains involving large, sensitive datasets.
This work paves the way for secure and privacy-preserving large-scale genomic analyses.