Whole genome sequencing

genome sequencingfull genome sequencingsequencedwhole-genome sequencingsequencinggenome sequencegenome sequencedsequencesequence the genomenext-generation sequencing
Whole genome sequencing (also known as WGS, full genome sequencing, complete genome sequencing, or entire genome sequencing) is ostensibly the process of determining the complete DNA sequence of an organism's genome at a single time.wikipedia
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DNA sequencing

DNA sequencesequencesequencing
The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response.
DNA sequencing may be used to determine the sequence of individual genes, larger genetic regions (i.e. clusters of genes or operons), full chromosomes, or entire genomes of any organism.

Human

humanshuman beinghuman beings
As of 2017 there were no complete genomes for any mammals, including humans.
With the sequencing of the human and chimpanzee genomes, current estimates of similarity between human and chimpanzee DNA sequences range between 95% and 99%.

Caenorhabditis elegans

C. eleganswormsC.elegans
The first multicellular eukaryote, and animal, to have its whole genome sequenced was the nematode worm: Caenorhabditis elegans in 1998.
It was the first multicellular organism to have its whole genome sequenced, and as of 2019, is the only organism to have its connectome (neuronal "wiring diagram") completed.

Genetic association

association studiesassociationassociation analyses
The tool of gene sequencing at SNP level is also used to pinpoint functional variants from association studies and improve the knowledge available to researchers interested in evolutionary biology, and hence may lay the foundation for predicting disease susceptibility and drug response.
Genetic association studies today are based on the principle that genotypes can be compared "directly", i.e. with the sequences of the actual genomes or exomes via whole genome sequencing or whole exome sequencing.

Shotgun sequencing

shotgunwhole genome shotgun sequencingpaired end sequencing
influenzae'', were sequenced by Shotgun sequencing.
Shotgun sequencing was one of the precursor technologies that was responsible for enabling full genome sequencing.

House mouse

Mus musculusmicehouse mice
The genome of the laboratory mouse Mus musculus was completed in 2002.
The complete mouse reference genome was sequenced in 2002.

Knome

A number of public and private companies are competing to develop a full genome sequencing platform that is commercially robust for both research and clinical use, including Illumina, Knome, Sequenom,
Since their 2007 launch, Knome’s sole focus has been on improving lives by applying scientific insights gained from the interpretation of human genomes.

Ancient DNA

aDNAextracted from fossilsancient
Almost any biological sample containing a full copy of the DNA—even a very small amount of DNA or ancient DNA—can provide the genetic material necessary for full genome sequencing.
Whole genome sequencing started to yield results in 1995.

BGI Group

Beijing Genomics InstituteBGIBGI-Shenzhen
Helicos Biosciences, GE Global Research (General Electric), Affymetrix, IBM, Intelligent Bio-Systems, Life Technologies, Oxford Nanopore Technologies, and the Beijing Genomics Institute.
BGI, known as the BGI Group, is a Chinese genome sequencing company, headquartered in Shenzhen, Guangdong, China.

Cell-free fetal DNA

cell-free DNACell free fetal DNA cell-free fetal DNA (cffDNA)
After implantation, cell-free fetal DNA can be taken by simple venipuncture from the mother and used for whole genome sequencing of the fetus.
Fetal whole of genome mapping by parental haplotype analysis was completed using sequencing of cffDNA from maternal serum.

$1,000 genome

$1,000
A commonly-referenced commercial target for sequencing cost until the late 2010s was $1,000, however, the private companies are working to reach a new target of only $100.
The $1,000 genome refers to an era of predictive and personalized medicine during which the cost of fully sequencing an individual's genome (WGS) is roughly one thousand USD.

Genome

genomesgenetic materialgenomic
Whole genome sequencing (also known as WGS, full genome sequencing, complete genome sequencing, or entire genome sequencing) is ostensibly the process of determining the complete DNA sequence of an organism's genome at a single time.

DNA profiling

DNA evidenceDNA fingerprintinggenetic fingerprinting
Whole genome sequencing should not be confused with DNA profiling, which only determines the likelihood that genetic material came from a particular individual or group, and does not contain additional information on genetic relationships, origin or susceptibility to specific diseases.

Preimplantation genetic diagnosis

preimplantation genetic screeningpre-implantation genetic diagnosisPGD
Single cell genome sequencing is being tested as a method of preimplantation genetic diagnosis, wherein a cell from the embryo created by in vitro fertilization is taken and analyzed before embryo transfer into the uterus.
In addition to FISH and PCR, single cell genome sequencing is being tested as a method of preimplantation genetic diagnosis.

Pyrosequencing

Biotage454 pyrosequencingBiotage Pyrosequencer
Since 2005 capillary sequencing has been progressively displaced by high-throughput (formerly "next-generation") sequencing technologies such as Illumina dye sequencing, pyrosequencing, and SMRT sequencing.
This became the first next generation sequencing instrument starting a new era in genomics research, with rapidly falling prices for DNA sequencing allowing whole genome sequencing at affordable prices.

Illumina, Inc.

IlluminaSolexaIllumina (company)
With sequencing costs declining, a number of companies began claiming that their equipment would soon achieve the $1,000 genome: these companies included Life Technologies in January 2012, Oxford Nanopore Technologies in February 2012, and Illumina in February 2014.
In June 2009, Illumina announced the launch of their own Personal Full Genome Sequencing Service at a depth of 30X for $48,000 per genome, and a year later dropped the price to $19,500.

Predictive medicine

predictiveTheranostic probespredictive test
However, comprehensive genetic testing (such as through the use of DNA arrays or full genome sequencing) allows for the estimation of disease risk years to decades before any disease even exists, or even whether a healthy fetus is at higher risk for developing a disease in adolescence or adulthood.

Veritas Genetics

In 2016, Veritas Genetics began selling whole genome sequencing, including a report as to some of the information in the sequencing for $999.
Its flagship product, myGenome, aims to provide consumers with information about their genetic risk for disease and allergic reactions based on whole-genome sequencing results.

Exome sequencing

Whole exome sequencingwhole-exome sequencingexome
In addition, whole genome sequencing should not be confused with methods that sequence specific subsets of the genome - such methods include whole exome sequencing (1-2% of the genome) or SNP genotyping (
The goal of this approach is to identify genetic variants that alter protein sequences, and to do this at a much lower cost than whole-genome sequencing.

Genomics England

He also announced that starting in 2019, the NHS will offer whole genome sequencing (WGS) to all children suspected of having a rare genetic disease or with cancer.

Coverage (genetics)

deep sequencingcoveragelow coverage
In June 2009, Illumina announced that they were launching their own Personal Full Genome Sequencing Service at a depth of 30× for $48,000 per genome. The first nearly complete human genomes sequenced were two Americans of predominantly Northwestern European ancestry in 2007 (J. Craig Venter at 7.5-fold coverage, and James Watson at 7.4-fold).
The average coverage for a whole genome can be calculated from the length of the original genome (G), the number of reads (N), and the average read length (L) as N\times L/G.

Genetic discrimination

forbiddenGenismgenoism
On the other hand, genetic testing has potential downsides such as genetic discrimination, loss of anonymity, and psychological impacts such as discovery of non-paternity.
Job interviews, health insurance purchasing, and even potential dates can be sized up according to the perceived quality of the person's DNA due to advancements in genome sequencing.

Genetic testing

DNA testingDNA analysisDNA test
Specific genetic tests are also available to determine an etiology when a child's symptoms appear to have a genetic basis. This potential use of genome sequencing is highly controversial, as it runs counter to established ethical norms for predictive genetic testing of asymptomatic minors that have been well established in the fields of medical genetics and genetic counseling.

Craig Venter

J. Craig VenterDr. Craig VenterJ. Craig Venter Ph.D.
The first nearly complete human genomes sequenced were two Americans of predominantly Northwestern European ancestry in 2007 (J. Craig Venter at 7.5-fold coverage, and James Watson at 7.4-fold).

Genetic counseling

genetic counselorgenetic counsellinggenetic counsellor
This potential use of genome sequencing is highly controversial, as it runs counter to established ethical norms for predictive genetic testing of asymptomatic minors that have been well established in the fields of medical genetics and genetic counseling.