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Related Concept Videos

Genomics02:02

Genomics

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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...
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Genome-wide Association Studies-GWAS01:11

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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...
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Updated: Nov 30, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Data Sanitization to Reduce Private Information Leakage from Functional Genomics.

Gamze Gürsoy1, Prashant Emani1, Charlotte M Brannon1

  • 1Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA; Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT 06520, USA.

Cell
|November 13, 2020
PubMed
Summary

Researchers developed a data-sanitization procedure to share functional genomics data, minimizing privacy risks. This enables broader data sharing for improved research reproducibility and statistical power while protecting participant privacy.

Keywords:
RNA-seqdata sanitization“functional genomicsgenome privacylinkage attackssurreptitious DNA sequencing

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Area of Science:

  • Genomics
  • Bioinformatics
  • Computational Biology

Background:

  • Functional genomics datasets are rapidly expanding, offering insights into gene regulation and organismal phenotypes.
  • Next-generation sequencing in these studies raises privacy concerns, limiting broad data sharing.
  • Existing controlled-access models hinder the sharing of raw reads crucial for statistical power and reproducibility.

Purpose of the Study:

  • To develop a data-sanitization procedure for sharing raw functional genomics reads.
  • To minimize privacy leakage while enabling principled privacy-utility trade-offs.
  • To facilitate broader sharing of functional genomics data.

Main Methods:

  • A novel data-sanitization protocol was developed for raw functional genomics reads.
  • The procedure quantifies privacy leakage by statistically linking study participants to known individuals.
  • Linkage analysis was performed using both high-accuracy reference genomes and environmental samples.

Main Results:

  • The data-sanitization procedure effectively minimizes privacy leakage from functional genomics reads.
  • The protocol is compatible with traditional Illumina assays and advanced 10x single-cell RNA sequencing.
  • The method allows for balancing privacy protection with data utility for research purposes.

Conclusions:

  • A new method for sanitizing functional genomics data allows for wider sharing.
  • This approach addresses privacy concerns associated with next-generation sequencing data.
  • The developed protocol supports enhanced research reproducibility and statistical power.