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Genomics

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...

Genomic Imprinting and Inheritance

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...

Genome Size and the Evolution of New Genes

Genome Size and the Evolution of New Genes

While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...

Genomic DNA in Prokaryotes

Genomic DNA in Prokaryotes

The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
Genomic Diversity in Bacteria
Although bacterial genomes are much...

Genomic DNA in Eukaryotes

Genomic DNA in Eukaryotes

Eukaryotes have large genomes compared to prokaryotes. To fit their genomes into a cell, eukaryotic DNA is packaged extraordinarily tightly inside the nucleus. To achieve this, DNA is tightly wound around proteins called histones, which are packaged into nucleosomes that are joined by linker DNA and coil into chromatin fibers. Additional fibrous proteins further compact the chromatin, which is recognizable as chromosomes during certain phases of cell division.

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Related Experiment Video

Updated: Jan 22, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

Consent and Autonomy in the Genomics Era.

Rachel Horton^1,2, Anneke Lucassen^1,2

¹Clinical Ethics and Law at Southampton (CELS), Faculty of Medicine, University of Southampton, Centre for Cancer Immunology, Southampton General Hospital, Southampton, SO16 6YD UK.

Current Genetic Medicine Reports

|July 9, 2019

Summary

Genomic testing offers diagnostic potential but faces challenges with uncertain results. Valid consent requires managing expectations and embracing an open-ended approach within trustworthy systems to uphold patient autonomy.

Keywords:

Autonomy Broad consent Consent Ethics Genomics Relational autonomy

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Last Updated: Jan 22, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis

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Published on: March 15, 2019

Mouse Genome Engineering Using Designer Nucleases

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Published on: April 2, 2014

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Area of Science:

Genomic Medicine
Bioethics
Informed Consent

Background:

Genomic tests provide diagnostic opportunities but often yield complex and uncertain results.
Results may require future revision or become relevant later, complicating immediate interpretation.
Public perception of genomic testing is often overly optimistic and deterministic.

Purpose of the Study:

To discuss the challenges genomic test outputs pose for informed consent and patient autonomy.
To explore how to ensure valid consent in the face of result uncertainty.
To propose frameworks for ethical genomic testing practices.

Main Methods:

Literature review and ethical analysis of genomic testing consent models.
Discussion of the implications of result uncertainty on patient autonomy.
Exploration of relational autonomy concepts in genomic decision-making.

Main Results:

'Fully informed' consent is frequently unattainable for genomic testing due to inherent uncertainties.
Clinical communication must address and temper unrealistic expectations surrounding genomic test outcomes.
Uncertainty in genomic findings necessitates an open-ended consent approach.

Conclusions:

Broad consent for genomic testing is viable only within trusted systems that prevent abuse.
A relational concept of autonomy supports decision-making within patient networks.
Ethical genomic testing requires managing expectations and fostering trust to ensure valid consent.