115 relations: Affymetrix, Allele, Alpha helix, Alzheimer's disease, Amino acid, Apolipoprotein E, Arginine, Autoimmunity, Bioinformatics, Biomolecular structure, C-reactive protein, Cancer, Capillary electrophoresis, Chemical substance, Coding region, Cohort (statistics), Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, David J. Galton, DbSNP, Disease, DNA damage (naturally occurring), DNA mismatch repair, DNA profiling, DNA sequencing, Ensembl genome database project, Expression quantitative trait loci, Factor V, Factor V Leiden, FCN1, GC-content, Gel electrophoresis, Gene, Gene expression, Gene mapping, Genetic association, Genetic disorder, Genetic recombination, Genome, Genome-wide association study, Guanine, GWAS Central, Haplotype, Hepatitis, HIV/AIDS, Illumina (company), Infection, Intergenic region, International HapMap Project, Intron, ..., Journal of Affective Disorders, Leprosy, Leucine, Linkage disequilibrium, LMNA, Locus (genetics), Machine learning, Male infertility, Mandibuloacral dysplasia, Mary Ann Liebert, Inc., Mass spectrometry, Medication, Messenger RNA, Microsatellite, Minor allele frequency, Missense mutation, Molecular and Cellular Probes, Mutation, MutationTaster, National Center for Biotechnology Information, Neuropsychiatry, Non-coding DNA, Nonsense mutation, Nonsynonymous substitution, Nucleotide, Online Mendelian Inheritance in Man, Osteoporosis, P-glycoprotein, Pathogen, Personalized medicine, Pharmacogenomics, Phenotype, Phenylthiocarbamide, PMS2, Point mutation, Polymorphism (biology), Progeria, Protein, Recombinant DNA, Restriction fragment length polymorphism, Rs6311, Rs6313, Sickle cell disease, Silent mutation, Single-base extension, Single-strand conformation polymorphism, SNP array, SNP genotyping, SNPedia, Snpstr, SNV calling from NGS data, Sperm, Stop codon, Synonymous substitution, Tag SNP, TaqMan, TAS2R38, Thymine, Transcription (biology), Transcription factor, Truncation, Vaccine, Variome, Wild type, 5-HT2A receptor. Expand index (65 more) » « Shrink index
Affymetrix, Inc. was an American company that manufactured DNA microarrays; it was based in Santa Clara, California, United States.
An allele is a variant form of a given gene.
The alpha helix (α-helix) is a common motif in the secondary structure of proteins and is a righthand-spiral conformation (i.e. helix) in which every backbone N−H group donates a hydrogen bond to the backbone C.
Alzheimer's disease (AD), also referred to simply as Alzheimer's, is a chronic neurodegenerative disease that usually starts slowly and worsens over time.
Amino acids are organic compounds containing amine (-NH2) and carboxyl (-COOH) functional groups, along with a side chain (R group) specific to each amino acid.
Apolipoprotein E (ApoE) is a class of proteins involved in the metabolism of fats in the body.
Arginine (symbol Arg or R) is an α-amino acid that is used in the biosynthesis of proteins.
Autoimmunity is the system of immune responses of an organism against its own healthy cells and tissues.
Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data.
Biomolecular structure is the intricate folded, three-dimensional shape that is formed by a molecule of protein, DNA, or RNA, and that is important to its function.
C-reactive protein (CRP) is an annular (ring-shaped), pentameric protein found in blood plasma, whose levels rise in response to inflammation.
Cancer is a group of diseases involving abnormal cell growth with the potential to invade or spread to other parts of the body.
Capillary electrophoresis (CE) is a family of electrokinetic separation methods performed in submillimeter diameter capillaries and in micro- and nanofluidic channels.
A chemical substance, also known as a pure substance, is a form of matter that consists of molecules of the same composition and structure.
The coding region of a gene, also known as the CDS (from CoDing Sequence), is that portion of a gene's DNA or RNA that codes for protein.
In statistics, marketing and demography, a cohort is a group of subjects who share a defining characteristic (typically subjects who experienced a common event in a selected time period, such as birth or graduation).
Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine.
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene.
David Jeremy Galton (born 2 May 1937) is a British physician and researcher in molecular genetics and metabolic disease, primarily the hyperlipidemias and diabetes mellitus.
The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI).
A disease is any condition which results in the disorder of a structure or function in an organism that is not due to any external injury.
DNA damage is distinctly different from mutation, although both are types of error in DNA.
DNA mismatch repair (MMR) is a system for recognizing and repairing erroneous insertion, deletion, and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairing some forms of DNA damage.
DNA profiling (also called DNA fingerprinting, DNA testing, or DNA typing) is the process of determining an individual's DNA characteristics, which are as unique as fingerprints.
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule.
Ensembl genome database project is a joint scientific project between the European Bioinformatics Institute and the Wellcome Trust Sanger Institute, which was launched in 1999 in response to the imminent completion of the Human Genome Project.
Expression quantitative trait loci (eQTLs) are genomic loci that explain all or a fraction of variation in expression levels of mRNAs.
Factor V (pronounced factor five) is a protein of the coagulation system, rarely referred to as proaccelerin or labile factor.
Factor V Leiden (rs6025) is a variant (mutated form) of human factor V (one of several substances that helps blood clot), which causes an increase in blood clotting (hypercoagulability).
Ficolin-1, and also commonly termed M-ficolin is a protein that in humans is encoded by the FCN1 gene.
In molecular biology and genetics, GC-content (or guanine-cytosine content) is the percentage of nitrogenous bases on a DNA or RNA molecule that are either guanine or cytosine (from a possibility of four different ones, also including adenine and thymine in DNA and adenine and uracil in RNA).
Gel electrophoresis is a method for separation and analysis of macromolecules (DNA, RNA and proteins) and their fragments, based on their size and charge.
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.
Gene mapping describes the methods used to identify the locus of a gene and the distances between genes.
Genetic association is when one or more genotypes within a population co-occur with a phenotypic trait more often than would be expected by chance occurrence.
A genetic disorder is a genetic problem caused by one or more abnormalities in the genome.
Genetic recombination (aka genetic reshuffling) is the production of offspring with combinations of traits that differ from those found in either parent.
In the fields of molecular biology and genetics, a genome is the genetic material of an organism.
In genetics, a genome-wide association study (GWA study, or GWAS), also known as whole genome association study (WGA study, or WGAS), is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait.
Guanine (or G, Gua) is one of the four main nucleobases found in the nucleic acids DNA and RNA, the others being adenine, cytosine, and thymine (uracil in RNA).
GWAS Central (previously HGBASE, HGVbase and HGVbaseG2P) is a publicly available database of summary-level findings from genetic association studies in humans, including genome-wide association studies (GWAS).
A haplotype (haploid genotype) is a group of alleles in an organism that are inherited together from a single parent.
Hepatitis is inflammation of the liver tissue.
Human immunodeficiency virus infection and acquired immune deficiency syndrome (HIV/AIDS) is a spectrum of conditions caused by infection with the human immunodeficiency virus (HIV).
Illumina, Inc. is an American company incorporated in April 1998 that develops, manufactures and markets integrated systems for the analysis of genetic variation and biological function.
Infection is the invasion of an organism's body tissues by disease-causing agents, their multiplication, and the reaction of host tissues to the infectious agents and the toxins they produce.
An Intergenic region (IGR) is a stretch of DNA sequences located between genes.
The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation.
An intron is any nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product.
The Journal of Affective Disorders is a peer-reviewed medical journal covering research on all aspects of affective disorders.
Leprosy, also known as Hansen's disease (HD), is a long-term infection by the bacterium Mycobacterium leprae or Mycobacterium lepromatosis.
Leucine (symbol Leu or L) is an essential amino acid that is used in the biosynthesis of proteins.
In population genetics, linkage disequilibrium is the non-random association of alleles at different loci in a given population.
Lamin A/C also known as LMNA is a protein that in humans is encoded by the LMNA gene.
A locus (plural loci) in genetics is a fixed position on a chromosome, like the position of a gene or a marker (genetic marker).
Machine learning is a subset of artificial intelligence in the field of computer science that often uses statistical techniques to give computers the ability to "learn" (i.e., progressively improve performance on a specific task) with data, without being explicitly programmed.
Male infertility refers to a male's inability to cause pregnancy in a fertile female.
Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia, delayed cranial suture closure, dysplastic clavicles, abbreviated and club-shaped terminal phalanges, acroosteolysis, atrophy of the skin of the hands and feet, and typical facial changes.
Mary Ann Liebert, Inc. is a privately held independent publishing company founded by its president, Mary Ann Liebert, in 1980.
Mass spectrometry (MS) is an analytical technique that ionizes chemical species and sorts the ions based on their mass-to-charge ratio.
A medication (also referred to as medicine, pharmaceutical drug, or simply drug) is a drug used to diagnose, cure, treat, or prevent disease.
Messenger RNA (mRNA) is a large family of RNA molecules that convey genetic information from DNA to the ribosome, where they specify the amino acid sequence of the protein products of gene expression.
A microsatellite is a tract of repetitive DNA in which certain DNA motifs (ranging in length from 1–6 or more base pairs) are repeated, typically 5–50 times.
Minor allele frequency (MAF) refers to the frequency at which the second most common allele occurs in a given population.
In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.
Molecular and Cellular Probes is a peer-reviewed scientific journal covering research on the location, diagnosis, and monitoring of inherited and infectious disease utilizing genomic, proteomic, and immunological techniques.
In biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of an organism, virus, or extrachromosomal DNA or other genetic elements.
MutationTaster is a free web-based application to evaluate DNA sequence variants for their disease-causing potential.
The National Center for Biotechnology Information (NCBI) is part of the United States National Library of Medicine (NLM), a branch of the National Institutes of Health (NIH).
Neuropsychiatry is a branch of medicine that deals with mental disorders attributable to diseases of the nervous system.
In genomics and related disciplines, noncoding DNA sequences are components of an organism's DNA that do not encode protein sequences.
In genetics, a point-nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a point-nonsense codon in the transcribed mRNA, and in a truncated, incomplete, and usually nonfunctional protein product.
A nonsynonymous substitution is a nucleotide mutation that alters the amino acid sequence of a protein.
Nucleotides are organic molecules that serve as the monomer units for forming the nucleic acid polymers deoxyribonucleic acid (DNA) and ribonucleic acid (RNA), both of which are essential biomolecules within all life-forms on Earth.
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship.
Osteoporosis is a disease where increased bone weakness increases the risk of a broken bone.
P-glycoprotein 1 (permeability glycoprotein, abbreviated as P-gp or Pgp) also known as multidrug resistance protein 1 (MDR1) or ATP-binding cassette sub-family B member 1 (ABCB1) or cluster of differentiation 243 (CD243) is an important protein of the cell membrane that pumps many foreign substances out of cells.
In biology, a pathogen (πάθος pathos "suffering, passion" and -γενής -genēs "producer of") or a '''germ''' in the oldest and broadest sense is anything that can produce disease; the term came into use in the 1880s.
Personalized medicine, also termed precision medicine, is a medical procedure that separates patients into different groups—with medical decisions, practices, interventions and/or products being tailored to the individual patient based on their predicted response or risk of disease.
Pharmacogenomics is the study of the role of the genome in drug response.
A phenotype is the composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, behavior, and products of behavior (such as a bird's nest).
Phenylthiocarbamide (PTC), also known as phenylthiourea (PTU), is an organosulfur thiourea containing a phenyl ring.
Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the PMS2 gene.
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA.
Polymorphism in biology and zoology is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species.
Progeria is an extremely rare autosomal dominant genetic disorder in which symptoms resembling aspects of aging are manifested at a very early age.
Proteins are large biomolecules, or macromolecules, consisting of one or more long chains of amino acid residues.
Recombinant DNA (rDNA) molecules are DNA molecules formed by laboratory methods of genetic recombination (such as molecular cloning) to bring together genetic material from multiple sources, creating sequences that would not otherwise be found in the genome.
In molecular biology, restriction fragment length polymorphism (RFLP) is a technique that exploits variations in homologous DNA sequences.
In genetics rs6311 is a gene variation—a single nucleotide polymorphism (SNP)—in the human HTR2A gene that codes for the 5-HT2A receptor.
In genetics, rs6313 also called T102C or C102T is a gene variation—a single nucleotide polymorphism (SNP)—in the human HTR2A gene that codes for the 5-HT2A receptor.
Sickle cell disease (SCD) is a group of blood disorders typically inherited from a person's parents.
Silent mutations are mutations in DNA that do not have an observable effect on the organism's phenotype.
Single-base extension (SBE) is a method for determining the identity of a nucleotide base at a specific position along a nucleic acid.
Single-strand conformation polymorphism (SSCP), or single-strand chain polymorphism, is defined as a conformational difference of single-stranded nucleotide sequences of identical length as induced by differences in the sequences under certain experimental conditions.
In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population.
SNP genotyping is the measurement of genetic variations of single nucleotide polymorphisms (SNPs) between members of a species.
SNPedia (pronounced "snipedia") is a wiki-based bioinformatics web site that serves as a database of single nucleotide polymorphisms (SNPs).
A SNPSTR is a compound genetic marker composed of one or more SNPs and one microsatellite (STR).
SNV calling from NGS data refers to a range of methods for identifying the existence of single nucleotide variants (SNVs) from the results of next generation sequencing (NGS) experiments.
Sperm is the male reproductive cell and is derived from the Greek word (σπέρμα) sperma (meaning "seed").
In the genetic code, a stop codon (or termination codon) is a nucleotide triplet within messenger RNA that signals a termination of translation into proteins.
A synonymous substitution (often called a silent substitution though they are not always silent) is the evolutionary substitution of one base for another in an exon of a gene coding for a protein, such that the produced amino acid sequence is not modified.
A tag SNP is a representative single nucleotide polymorphism (SNP) in a region of the genome with high linkage disequilibrium that represents a group of SNPs called a haplotype.
TaqMan probes are hydrolysis probes that are designed to increase the specificity of quantitative PCR.
Taste receptor 2 member 38 is a protein that in humans is encoded by the TAS2R38 gene.
---> Thymine (T, Thy) is one of the four nucleobases in the nucleic acid of DNA that are represented by the letters G–C–A–T.
Transcription is the first step of gene expression, in which a particular segment of DNA is copied into RNA (especially mRNA) by the enzyme RNA polymerase.
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence.
In mathematics and computer science, truncation is limiting the number of digits right of the decimal point.
A vaccine is a biological preparation that provides active acquired immunity to a particular disease.
The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change.
Wild type (WT) refers to the phenotype of the typical form of a species as it occurs in nature.
The mammalian 5-HT2A receptor is a subtype of the 5-HT2 receptor that belongs to the serotonin receptor family and is a G protein-coupled receptor (GPCR).
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