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Related Concept Videos

Genomics02:02

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...
Next-generation Sequencing03:00

Next-generation Sequencing

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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Genome-wide Association Studies-GWAS01:11

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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Updated: Jun 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Enabling responsible public genomics.

John M Conley1, Adam K Doerr, Daniel B Vorhaus

  • 1University of North Carolina, Chapel Hill, USA.

Health Matrix (Cleveland, Ohio : 1991)
|January 20, 2011
PubMed
Summary
This summary is machine-generated.

Advancing genomic research requires a shift from privacy to openness, creating a "public genomics" commons. This model, exemplified by the Personal Genome Project, necessitates updated legal and ethical frameworks for responsible data sharing and scientific advancement.

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Last Updated: Jun 5, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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Published on: April 4, 2018

Infinium Assay for Large-scale SNP Genotyping Applications
13:33

Infinium Assay for Large-scale SNP Genotyping Applications

Published on: November 19, 2013

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Area of Science:

  • Genomics
  • Bioethics
  • Legal Studies

Background:

  • Scientific advancements necessitate richer datasets combining genomic and personal information.
  • Current legal and ethical frameworks are insufficient for next-generation human genomic research.
  • Linking genetic data with personal information raises significant privacy and medical data concerns.

Purpose of the Study:

  • To address new challenges in human genomic research and commerce.
  • To present a novel
  • public genomics
  • model for responsible research.
  • To examine the risks and benefits of open genomic data sharing.

Main Methods:

  • Analysis of the
  • public genomics
  • model.
  • Case study of the Personal Genome Project.
  • Evaluation of existing legal and regulatory regimes.

Main Results:

  • Large-scale genomic projects are desirable and beneficial.
  • Public genomics research presents unique risks and challenges.
  • Current regulations inadequately protect participants and hinder scientific inquiry.

Conclusions:

  • A modified legal and normative framework is needed to enable responsible public genomics.
  • Openness, not privacy, should be the organizing principle for ethical genomics.
  • Informed consent and data sharing are crucial for advancing genomic research.