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Related Concept Videos

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.
Sanger Sequencing01:57

Sanger Sequencing

DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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...
RNA-seq03:21

RNA-seq

RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
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...

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Related Experiment Video

Updated: May 7, 2026

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

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

Published on: April 4, 2018

Genome sequencing for healthy individuals.

Saskia C Sanderson1

  • 1Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

Trends in Genetics : TIG
|September 17, 2013
PubMed
Summary

Genome sequencing in healthy people can boost well-being and prevent diseases. However, challenges must be overcome to ensure these health benefits are accessible to everyone equitably.

Area of Science:

  • Genomics
  • Preventive Medicine
  • Health Equity

Background:

  • Genome sequencing of healthy individuals offers significant potential for advancing personal well-being and proactive disease prevention strategies.
  • Realizing these benefits necessitates addressing current technical, ethical, and logistical challenges.
  • Ensuring equitable access to genomic information and its applications across diverse societal groups is paramount.

Purpose of the Study:

  • To explore the potential benefits of genome sequencing for healthy individuals.
  • To identify key challenges hindering the widespread adoption and equitable distribution of these benefits.
  • To emphasize the importance of addressing these challenges for societal health equity.

Main Methods:

  • Review of current literature on genome sequencing applications in healthy populations.

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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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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

Published on: October 6, 2014

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Last Updated: May 7, 2026

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

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

Published on: April 4, 2018

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
08:15

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

Published on: October 6, 2014

  • Analysis of existing barriers to genomic data accessibility and utilization.
  • Discussion of ethical considerations and policy implications for equitable implementation.

    • Main Results:

    • Genome sequencing can empower individuals with actionable health insights, facilitating personalized preventive care.
    • Significant hurdles include data interpretation, cost, privacy concerns, and a lack of standardized clinical integration.
    • Disparities in access and understanding risk exacerbating existing health inequities.

    Conclusions:

    • Harnessing the full potential of genome sequencing for population health requires a concerted effort to overcome identified challenges.
    • Prioritizing health equity in the development and deployment of genomic technologies is essential.
    • Future strategies must focus on inclusive access, education, and ethical governance to ensure universal benefit.