Related Experiment Video
Updated: Jun 19, 2026

10:00
An Ultrahigh-throughput Microfluidic Platform for Single-cell Genome Sequencing
Published on: May 23, 2018
Sequencing genomes: from individuals to populations.
1The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. kalim.mir@well.ox.ac.uk
Briefings in Functional Genomics & Proteomics
|October 8, 2009
Summary
Personalized genomics offers future healthcare advancements. Continued genome sequencing and association studies are crucial for understanding genetic variants, traits, and epigenetic factors, enabling medical benefits.
Area of Science:
- Genomics
- Personalized Medicine
- Epigenetics
Background:
- Personalized genomics, exemplified by early whole genome sequences, holds promise for future healthcare.
- Realizing practical medical benefits and population-scale implementation requires a deeper understanding of genetic influences on traits.
- The interplay between genetic variants, epigenetic factors, and observable traits needs further elucidation.
Purpose of the Study:
- To emphasize the necessity of continued individual genome sequencing.
- To highlight the importance of sequencing sub-populations for genetic association studies.
- To underscore the need for ongoing advancements in sequencing technology.
Main Methods:
- Whole genome sequencing of individuals.
- Analysis of genetic variants within sub-populations.
- Association studies comparing disease-affected and unaffected individuals.
Main Results:
- Early whole genome sequences demonstrate the potential of personalized genomics.
- Understanding genetic variant effects on traits and epigenetic modifications is essential.
- Large-scale association studies are vital for linking DNA sequence to phenotype.
Conclusions:
- Continued genome sequencing efforts are critical for advancing personalized medicine.
- Further research into genetic variants and epigenetic factors is needed for clinical application.
- Sustained progress in sequencing technology is imperative for population-scale genomic studies.
Related Concept Videos
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 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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
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...
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...
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while microarray-based...
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...
What is Population Genetics?
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.While some alleles of a given gene might be observed commonly, other variants...

