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Concept in action

Online Mendelian Inheritance in Man (OMIM) is a searchable online catalog of human genes and genetic disorders. This website shows genome mapping, and also details the history and research of each trait and disorder. Click the link to search for traits (such as handedness) and genetic disorders (such as diabetes).

Whole genome sequencing

Although there have been significant advances in the medical sciences in recent years, doctors are still confounded by many diseases and researchers are using whole genome sequencing to get to the bottom of the problem. Whole genome sequencing is a process that determines the DNA sequence of an entire genome. Whole genome sequencing is a brute-force approach to problem solving when there is a genetic basis at the core of a disease. Several laboratories now provide services to sequence, analyze, and interpret entire genomes.

In 2010, whole genome sequencing was used to save a young boy whose intestines had multiple mysterious abscesses. The child had several colon operations with no relief. Finally, a whole genome sequence revealed a defect in a pathway that controls apoptosis (programmed cell death). A bone marrow transplant was used to overcome this genetic disorder, leading to a cure for the boy. He was the first person to be successfully diagnosed using whole genome sequencing.

The first genomes to be sequenced, such as those belonging to viruses, bacteria, and yeast, were smaller in terms of the number of nucleotides than the genomes of multicellular organisms. The genomes of other model organisms, such as the mouse ( Mus musculus ), the fruit fly ( Drosophila melanogaster ), and the nematode ( Caenorhabditis elegans ) are now known. A great deal of basic research is performed in model organisms because the information can be applied to other organisms. A model organism is a species that is studied as a model to understand the biological processes in other species that can be represented by the model organism. For example, fruit flies are able to metabolize alcohol like humans, so the genes affecting sensitivity to alcohol have been studied in fruit flies in an effort to understand the variation in sensitivity to alcohol in humans. Having entire genomes sequenced helps with the research efforts in these model organisms ( [link] ).

Five photos are of the mouse, Mus musculus; the fruit fly, Drosophila melanogaster; the nematode Caenorhabditis elegans, viewed through a scanning electron microscope; the yeast Saccharomyces cerevisiae, seen in a differential interference contrast light micrograph; and a small white flower, Arabidopsis thaliana
Much basic research is done with model organisms, such as the mouse, Mus musculus ; the fruit fly, Drosophila melanogaster ; the nematode Caenorhabditis elegans ; the yeast Saccharomyces cerevisiae ; and the common weed, Arabidopsis thaliana . (credit "mouse": modification of work by Florean Fortescue; credit "nematodes": modification of work by "snickclunk"/Flickr; credit "common weed": modification of work by Peggy Greb, USDA; scale-bar data from Matt Russell)

The first human genome sequence was published in 2003. The number of whole genomes that have been sequenced steadily increases and now includes hundreds of species and thousands of individual human genomes.

Applying genomics

The introduction of DNA sequencing and whole genome sequencing projects, particularly the Human Genome Project, has expanded the applicability of DNA sequence information. Genomics is now being used in a wide variety of fields, such as metagenomics, pharmacogenomics, and mitochondrial genomics. The most commonly known application of genomics is to understand and find cures for diseases.

Questions & Answers

what Is taxonom
Don Reply
Taxonom is the the laws and principles guiding the classification of living things either plant 🌿 or animal
Samuel
protein synthesis began with what?
Kesselly Reply
What structures does a plant cell have that an animal cell does not hav
Martin Reply
A plant cell has a cell wall, a large central vacuole, and chloroplasts, which an animal cell does not have.
AI-Robot
what is the function of the cytoskeleton?
Martin
truly. Al-robot
Mark
why is it advantageous for the cell membrane to be fluid in nature?
Martin Reply
The fluid nature of the cell membrane allows for flexibility and dynamic changes in its structure. This allows for the movement of molecules and ions in and out of the cell, as well as the ability to respond to external stimuli. The fluidity of the membrane also allows for the formation of specialized structures such as receptor proteins, which are important for cell-cell communication.
AI-Robot
What is used as a visual marker for successful gene transfer into transgenic animals?
rhonda Reply
Parts of the body involved in homeostasis
Favour Reply
liver
Kirk
A collection of similar-typed cells working together to perform a specific function is called what?
Rachel Reply
tissue
Van
which structure consists of a phospholipid bilayers and it is known as the mosaic model?
Jamar Reply
cell membrane
Abanoub
what is diffusion
Patricia Reply
a passive process of transport
Jamar
Random movement of gas molecule from region of high concentration to a low concentration.
praise
10 difference between male and female reproductive system
Ina Reply
if a phase is omitted ,what will happen to the cell
Ewemoje Reply
discribe advantages and disadvantages of asexual and sexual reproduction
basi Reply
Compared to separate sexes and assuming self-fertilizing is not possible, what might be one advantage and one disadvantage to hermaphroditism?
Gift Reply
is nature of their environment among
basi
cool 😎
Precious
why are the laws of thermodynamics considered laws of nature and not scientific theories
Yolonda Reply
archea were given their own separate domain because they are?
Yolonda
which of the following is a basic component of all of the others?
Yolonda
which of the following organization levels is the least inclusive
Yolonda
which cell feature is absent in bacterial cells
Yolonda
which metric movies the base unit of measurement by one thousandth (0.001)?
Yolonda
What is biology?
Blessing Reply
List the branches of biology
Blessing
List the branches of biology
Blessing
List the branches of biology
Blessing
List the branches of biology
Blessing
Ecology,Anatomy,genetics,biophysics,biochemistry,microbiology and biotechnology.
praise

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Source:  OpenStax, Concepts of biology. OpenStax CNX. Feb 29, 2016 Download for free at http://cnx.org/content/col11487/1.9
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