Exome sequencing

Whole exome sequencingwhole-exome sequencingexome
Furthermore, because severe disease-causing variants are much more likely (but by no means exclusively) to be in the protein coding sequence, focusing on this 1% costs far less than whole genome sequencing but still detects a high yield of relevant variants. In the past, clinical genetic tests were chosen based on the clinical presentation of the patient (i.e. focused on one gene or a small number known to be associated with a particular syndrome), or surveyed only certain types of variation (e.g. comparative genomic hybridization) but provided definitive genetic diagnoses in fewer than half of all patients.

Outline of genetics

DNA sequencing. dominant. double helix. duplication. electrophoresis. fibroblasts. fluorescence in situ hybridization (FISH). gene. gene amplification. gene expression. gene library. gene mapping. gene pool. gene therapy. gene transfer. genetic code. ATGC. genetic counseling. genetic linkage. genetic map. genetic marker. genetic screening. genome. genotype. germ line. haploid. haploinsufficiency. hematopoietic stem cell. heterozygous. highly conserved sequence. holoprosencephaly. homologous recombination. homozygous. human artificial chromosome (HAC).

Index of genetics articles

List of genetics-related topicsIndex of genetic engineering articlesGenetic engineering topics
Sanger sequence. Sanger sequencing. Sarcoma. Satellite. Satellite chromosome. Satellite DNA. Scaffold. Scanning hypothesis. Scientific method. Screening. Screening technique. Second-site mutation. Secondary oocyte. Secondary structure. Sedimentation. Segmentation (biology). Segregation. Segregational load. Segregational petite. Selection. Selection progress. Selective medium. Selective neutrality. Selective system. Self. Self-assembly. Self-fertilization. Selfed. Selfish DNA. Sense strand. Sequence. Sequence assembly. Sequence tagged site. Sequencing. Sex chromosome. Sex chromosomes. Sex determination. Sex linkage. Sex linked. Sex reversal. Sex switch. Sex-controlled trait.

Index of molecular biology articles

List of molecular biology topicsMolecular biology topics
artificial chromosome - bacteriophage - bacteriophage lambda - band shift assay - base - base pair - binding site - biological organisation - biological process - biotin - birth defect - blotting - blunt end - bone marrow transplantation - box - BP - BRCA1 - BRCA2 - C terminus - cancer - candidate gene - Canonical sequence - cap - cap site - carboxyl terminus - carcinoma - carrier - CAT assay - CCAAT box - cDNA - cDNA clone - cDNA library - cell - centimorgan - centromere - chain terminator - chaperone protein - chromosome - Chromosomal translocation - chromosome walking - CIS - cistron - clone (genetics) - clone (noun) - clone (verb) - cloning - coding sequence - coding strand - codon - codon

List of events in NHGRI history

List of events in National Human Genome Research Institute history
April 1995 – The Task Force on Genetic Testing is established as a subgroup of the National Institutes of Health (NIH)/Department of Energy (DOE) Ethical, Legal and Social Implications (ELSI) Working Group. April 11, 1996 – Human DNA sequencing begins with pilot studies at six universities in the United States. April 24, 1996 – An international team completes the DNA sequence of the first eukaryotic genome, Saccharomyces cerevisiae, or common brewer's yeast.

2012 in science

A new genetic test can fully sequence the genome of a newborn baby in just 50 hours, a major improvement over the usual month-long sequencing process. The test can screen for 3,500 genetic diseases, allowing critically ill infants to be diagnosed and treated much more effectively. (TIME). Nissan unveils the NSC-2015, a prototype electric driverless car that can park itself, understand road markings and quickly report attempted thefts. A commercial version is planned for 2015. (BBC). 5 October. DARPA successfully tests technology which enables drones to conduct aerial refueling autonomously. (BBC) (DARPA).


These varieties were assumed to have sex chromosome composition XX. According to other researchers, no modern karyotype of Cannabis had been published as of 1996. Proponents of the XY system state that Y chromosome is slightly larger than the X, but difficult to differentiate cytologically. More recently, Sakamoto and various co-authors have used RAPD to isolate several genetic marker sequences that they name Male-Associated DNA in Cannabis (MADC), and which they interpret as indirect evidence of a male chromosome. Several other research groups have reported identification of male-associated markers using RAPD and AFLP.

Molecular phylogenetics

molecular phylogeneticmolecularmolecular phylogeny
These have been replaced in recent times largely by DNA sequencing, which produces the exact sequences of nucleotides or bases in either DNA or RNA segments extracted using different techniques. In general, these are considered superior for evolutionary studies, since the actions of evolution are ultimately reflected in the genetic sequences. At present, it is still a long and expensive process to sequence the entire DNA of an organism (its genome). However, it is quite feasible to determine the sequence of a defined area of a particular chromosome. Typical molecular systematic analyses require the sequencing of around 1000 base pairs.

Evolution of the wolf

wolf-like canidsC. chihliensisC. mosbachensis
In 2010, a study compared DNA sequences that were 230 base pairs in length from the mitochondrial control region of 24 ancient wolf specimens from western Europe dated between 44,000–1,200 YBP with those of modern gray wolves. Most of the sequences could be represented on a phylogenetic tree. However, the haplotypes of the Himalayan wolf and the Indian gray wolf could not because they were 8 mutations apart from the other wolves, indicating distinct lineages which had previously been found in other studies.

Institute for Genetic Engineering and Biotechnology Sarajevo

Institute for Genetic Engineering and BiotechnologyINGEB
Laboratory for cytogenetics and genotoxicology. paternity testing using samples of buccal swab (which reduces traumatic effect on children), blood, hair, bones and other baseline samples. motherless paternity testing. maternity testing without the presence of the father. biological kinship testing. forensic DNA analysis for police, prosecution, law offices, courts and private individual purposes. detection of circulating DNA sequences as potential markers in molecular oncology. gene expression profiling for characterization of therapeutical effects of novel and biological substances and individual genetic predispozition to complex traits (disorders).

Chromosome conformation capture

Hi-C3C and 4CHi-C (experiment)
A novel contribution of this work is MotifHyades, a motif discovery tool that can be directly applied to paired sequences. The 3C-based techniques can provide insights into the chromosomal rearrangements in the cancer genomes. Moreover, they can show changes of spatial proximity for regulatory elements and their target genes, which bring deeper understanding of the structural and functional basis of the genome. * * Genetic testing In 1879, Walther Flemming coined the term chromatin. In 1883, August Weismann connected chromatin with heredity. In 1884, Albrecht Kossel discovered histones. In 1888, Sutton and Boveri proposed the theory of continuity of chromatin during the cell cycle.

Edmund Mach Foundation

Istituto Agrario di San Michele all’Adige
All of this obtained by classical plant breeding supported by molecular breeding: DNA sequencing and analysis. In the early 21st century, DNA research by José Vouillamoz of the Istituto Agrario di San Michele all’Adige discovered that ancestors of Sangiovese are most likely the Tuscan grape Ciliegiolo and southern Italian grape Calabrese Montenuovo. During 2007 and 2008, apple DNA sequences (around 13 billion sequenced nucleotides) were produced; and in 2009 researchers assembled and reconstructed the gene content and order into the 17 apple chromosomes. The apple genome decodification, published online by Nature Genetics, was coordinated by the Foundation E. Mach – Ist.

Genetic discrimination

Direct-to-consumer genetic testing was first offered in 1997 by GeneTree, a now defunct family history website. These tests are easily accessible on the market and popularized by companies such as 23andMe and Ancestry.com. These genetic kits are expensive and disproportionately serve wealthy individuals. As a result, when the data collected from testing is sold to research companies, it represents a biased sample of the population. The Food and Drug Administration additionally halted all 23andMe marketing in 2013 over unsubstantiated claims 23andMe made regarding disease diagnosis and prevention.


proteinsproteinaceousstructural proteins
Such homologous proteins can be efficiently identified in distantly related organisms by sequence alignment. Genome and gene sequences can be searched by a variety of tools for certain properties. Sequence profiling tools can find restriction enzyme sites, open reading frames in nucleotide sequences, and predict secondary structures. Phylogenetic trees can be constructed and evolutionary hypotheses developed using special software like ClustalW regarding the ancestry of modern organisms and the genes they express. The field of bioinformatics is now indispensable for the analysis of genes and proteins.


autosomalautosomal DNAautosomes
Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chromosome encodes the transcription factor TDF and is vital for male sex determination during development. TDF functions by activating the SOX9 gene on chromosome 17, so mutations of the SOX9 gene can cause humans with an ordinary Y chromosome to develop as females. All human autosomes have been identified and mapped by extracting the chromosomes from a cell arrested in metaphase or prometaphase and then staining them with a type of dye (most commonly, Giemsa). These chromosomes are typically viewed as karyograms for easy comparison.

Carrier testing

carrier testtest
Carrier testing is a type of genetic testing that is used to determine if a person is a carrier for a specific autosomal recessive diseases. This kind of testing is used most often by couples who are considering becoming pregnant to determine the risks of their child inheriting one of these genetic disorders. Genes come in pairs; one from the mother and one from the father. A carrier is a person who inherited one abnormal gene from one of their parents. Carriers often show no symptoms of the genetic disorder that they carry an abnormal gene for. Usually the only time a person finds out that they are a carrier for a specific genetic disorder is when they have an affected child.

Cell (biology)

This RNA strand is then processed to give messenger RNA (mRNA), which is free to migrate through the cell. mRNA molecules bind to protein-RNA complexes called ribosomes located in the cytosol, where they are translated into polypeptide sequences. The ribosome mediates the formation of a polypeptide sequence based on the mRNA sequence. The mRNA sequence directly relates to the polypeptide sequence by binding to transfer RNA (tRNA) adapter molecules in binding pockets within the ribosome. The new polypeptide then folds into a functional three-dimensional protein molecule. Unicellular organisms can move in order to find food or escape predators.

Down syndrome

Down's syndrometrisomy 21Downs Syndrome
As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes. When combined with a normal cell from the other parent, the baby has 47 chromosomes, with three copies of chromosome 21. About 88% of cases of trisomy 21 result from nonseparation of the chromosomes in the mother, 8% from nonseparation in the father, and 3% after the egg and sperm have merged. The extra chromosome 21 material may also occur due to a Robertsonian translocation in 2–4% of cases. In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14.

Turner syndrome

Turner's syndrome45,Xmonosomy X
Turner syndrome is due to a chromosomal abnormality in which all or part of one of the X chromosomes is missing or altered. While most people have 46 chromosomes, people with TS usually have 45. The chromosomal abnormality may be present in just some cells in which case it is known as TS with mosaicism. In these cases, the symptoms are usually fewer and possibly none occur at all. Diagnosis is based on physical signs and genetic testing. No cure for Turner syndrome is known. Treatment may help with symptoms. Human growth hormone injections during childhood may increase adult height. Estrogen replacement therapy can promote development of the breasts and hips.

Medical test

diagnostic testdiagnostic testsdiagnostic testing
Genetic testing. Blood Glucose testing. Liver function testing. Calcium testing. Testing for electrolytes in the blood, such as Sodium, Potassium, Creatinine, and Urea. Blood tests. Urine tests, including naked eye exam of the urine. Stool tests, including naked eye exam of the feces. Sputum (phlegm), including naked eye exam of the sputum. Accuracy of a laboratory test is its correspondence with the true value. Accuracy is maximized by calibrating laboratory equipment with reference material and by participating in external quality control programs. Precision of a test is its reproducibility when it is repeated on the same sample.


cytogeneticcytogeneticistchromosome analysis
A female with only one X chromosome has Turner syndrome, whereas an additional X chromosome in a male, resulting in 47 total chromosomes, has Klinefelter syndrome. Many other sex chromosome combinations are compatible with live birth including XXX, XYY, and XXXX. The ability for mammals to tolerate aneuploidies in the sex chromosomes arises from the ability to inactivate them, which is required in normal females to compensate for having two copies of the chromosome. Not all genes on the X chromosome are inactivated, which is why there is a phenotypic effect seen in individuals with extra X chromosomes. Trisomy 13 was associated with Patau syndrome and trisomy 18 with Edwards syndrome.

Coeliac disease

celiac diseaseceliac spruecoeliac
Diagnosis is typically made by a combination of blood antibody tests and intestinal biopsies, helped by specific genetic testing. Making the diagnosis is not always straightforward. Frequently, the autoantibodies in the blood are negative, and many people have only minor intestinal changes with normal villi. People may have severe symptoms and be investigated for years before a diagnosis is achieved. Increasingly, the diagnosis is being made in people without symptoms, as a result of screening. Evidence regarding the effects of screening, however, is not sufficient to determine its usefulness.

Illumina, Inc.

IlluminaSolexaIllumina (company)
The company Grail uses Illumina sequencing technology for tests. The company plans to roll out the tests by 2019, with a cost of $500 per individual. In November 2018, the company proposed the acquisition of Pacific Biosciences for $8.00 per share or around $1.2 billion in total. Illumina sells a number of high-throughput DNA sequencing systems, also known as DNA sequencers, based on technology developed by Solexa. The technology features bridge amplification to generate clusters and reversible terminators for sequence determination.

Bloom syndrome

Bloom's syndrome
The US Food and Drug Administration (FDA) announced on February 19, 2015 that they have authorized marketing of a direct-to-consumer genetic test from 23andMe. The test is designed to identify healthy individuals who carry a gene that could cause Bloom Syndrome in their offspring. Bloom syndrome has no specific treatment; however, avoiding sun exposure and using sunscreens can help prevent some of the cutaneous changes associated with photo-sensitivity. Efforts to minimize exposure to other known environmental mutagens are also advisable. Bloom syndrome is an extremely rare disorder in most populations and the frequency of the disease has not been measured in most populations.

Locus (genetics)

locuslociq arm
The ends of a chromosome are labeled "pter" and "qter", and so "2qter" refers to the terminus of the long arm of chromosome 2. Michael, R. Cummings. (2011). Human Heredity. Belmont, California: Brooks/Cole. 3 = chromosome 3. p = p-arm. 22 = region 2, band 2 (read as "two, two", not "twenty-two"). 1 = sub-band 1. Chromosomal translocation. Cytogenetic notation. Karyotype. Null allele. International System for Human Cytogenetic Nomenclature. Overview at ornl.gov. Chromosome Banding and Nomenclature from NCBI.