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Related Concept Videos

Genetic Variation01:25

Genetic Variation

780
Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...
780
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.0K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Multi-species Conserved Sequences02:51

Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
Although the genome of each species varies greatly from each other, a few sequences are highly conserved. Such conserved...
4.3K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.5K
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...
14.5K
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

6.4K
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...
6.4K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

16.5K
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,...
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Related Experiment Video

Updated: Oct 3, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Efficient privacy-preserving whole-genome variant queries.

Mete Akgün1,2,3,4, Nico Pfeifer2,5,6, Oliver Kohlbacher2,3,7

  • 1Medical Data Privacy and Privacy-Preserving ML on Healthcare Data, Department of Computer Science, University of Tübingen, Tübingen, Germany.

Bioinformatics (Oxford, England)
|February 12, 2022
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This study introduces a privacy-preserving method for querying genomic databases using secure multi-party computation. The novel approach enables efficient and secure analysis of sensitive genetic information, protecting individual privacy.

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Related Experiment Videos

Last Updated: Oct 3, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Area of Science:

  • Genomics
  • Bioinformatics
  • Computer Science

Background:

  • Genomic data is increasingly used for disease diagnosis and treatment decisions.
  • Genomic data is highly sensitive and requires robust privacy protection.
  • Existing methods for querying genomic databases pose risks to individual privacy.

Purpose of the Study:

  • To develop a privacy-preserving method for querying genomic databases.
  • To enable secure outsourcing and storage of genomic data in cloud environments.
  • To ensure data privacy, query privacy, and output privacy during genomic data analysis.

Main Methods:

  • Utilized secure multi-party computation (SMC) for privacy-preserving queries.
  • Employed XOR-based sharing for data, query, and output privacy.
  • Implemented a system with two non-colluding proxies for data outsourcing.

Main Results:

  • The proposed solution efficiently queries large-scale genomic databases (e.g., 3 million variants in under 400ms).
  • Queries on over a million genomes with millions of variants are feasible in minutes.
  • Achieved practical response times for querying multiple databases, suitable for real-world applications.

Conclusions:

  • The developed method offers a secure and efficient way to query genomic data.
  • This approach supports privacy-preserving disease-gene association studies and medical research.
  • It represents a significant advancement in protecting sensitive genomic information.