Genome-wide association studyIn genomics, a genome-wide association study (GWA study, or GWAS), 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. GWA studies typically focus on associations between single-nucleotide polymorphisms (SNPs) and traits like major human diseases, but can equally be applied to any other genetic variants and any other organisms. When applied to human data, GWA studies compare the DNA of participants having varying phenotypes for a particular trait or disease.
SchizophreniaSchizophrenia is a mental disorder characterized by continuous or relapsing episodes of psychosis. Major symptoms include hallucinations (typically hearing voices), delusions, and disorganized thinking. Other symptoms include social withdrawal, and flat affect. Symptoms typically develop gradually, begin during young adulthood, and in many cases never become resolved. There is no objective diagnostic test; diagnosis is based on observed behavior, a psychiatric history that includes the person's reported experiences, and reports of others familiar with the person.
Human genetic variationHuman genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles), a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. Differences between individuals, even closely related individuals, are the key to techniques such as genetic fingerprinting.
Whole genome sequencingWhole genome sequencing (WGS), also known as full genome sequencing, complete genome sequencing, or entire genome sequencing, is the process of determining the entirety, or nearly the entirety, of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. Whole genome sequencing has largely been used as a research tool, but was being introduced to clinics in 2014.
Genetic associationGenetic 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. Studies of genetic association aim to test whether single-locus alleles or genotype frequencies or more generally, multilocus haplotype frequencies differ between two groups of individuals usually diseased subjects and healthy controls). Genetic association studies are based on the principle that genotypes can be compared "directly", i.e.
Genetic variationGenetic variation is the difference in DNA among individuals or the differences between populations among the same species. The multiple sources of genetic variation include mutation and genetic recombination. Mutations are the ultimate sources of genetic variation, but other mechanisms, such as genetic drift, contribute to it, as well. Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes (e.
Schizoaffective disorderSchizoaffective disorder (SZA, SZD) is a mental disorder characterized by abnormal thought processes and an unstable mood. This diagnosis requires symptoms of both schizophrenia (usually psychosis) and a mood disorder: either bipolar disorder or depression. The main criterion is the presence of psychotic symptoms for at least two weeks without any mood symptoms. Schizoaffective disorder can often be misdiagnosed when the correct diagnosis may be psychotic depression, bipolar I disorder, schizophreniform disorder, or schizophrenia.
Single-nucleotide polymorphismIn genetics and bioinformatics, a single-nucleotide polymorphism (SNP snɪp; plural SNPs snɪps) is a germline substitution of a single nucleotide at a specific position in the genome that is present in a sufficiently large fraction of considered population (generally regarded as 1% or more). For example, a G nucleotide present at a specific location in a reference genome may be replaced by an A in a minority of individuals. The two possible nucleotide variations of this SNP – G or A – are called alleles.
Mood disorderA mood disorder, also known as an affective disorder, is any of a group of conditions of mental and behavioral disorder where a disturbance in the person's mood is the main underlying feature. The classification is in the Diagnostic and Statistical Manual of Mental Disorders (DSM) and International Classification of Diseases (ICD).
Gene polymorphismA gene is said to be polymorphic if more than one allele occupies that gene's locus within a population. In addition to having more than one allele at a specific locus, each allele must also occur in the population at a rate of at least 1% to generally be considered polymorphic. Gene polymorphisms can occur in any region of the genome. The majority of polymorphisms are silent, meaning they do not alter the function or expression of a gene. Some polymorphisms are visible.
Polymorphism (biology)In biology, polymorphism is the occurrence of two or more clearly different morphs or forms, also referred to as alternative phenotypes, in the population of a species. To be classified as such, morphs must occupy the same habitat at the same time and belong to a panmictic population (one with random mating). Put simply, polymorphism is when there are two or more possibilities of a trait on a gene. For example, there is more than one possible trait in terms of a jaguar's skin colouring; they can be light morph or dark morph.
Autism spectrumAutism, formally called autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental disorder characterized by deficits in social communication and social interaction, and repetitive or restricted patterns of behaviors, interests, or activities, which can include hyper- and hyporeactivity to sensory input. Autism is a spectrum disorder, meaning that it can manifest very differently in each person. For example, some are nonspeaking, while others have proficient spoken language.
Major depressive disorderMajor depressive disorder (MDD), also known as clinical depression, is a mental disorder characterized by at least two weeks of pervasive low mood, low self-esteem, and loss of interest or pleasure in normally enjoyable activities. Introduced by a group of US clinicians in the mid-1970s, the term was adopted by the American Psychiatric Association for this symptom cluster under mood disorders in the 1980 version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-III), and has become widely used since.
Human genomeThe human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome and the mitochondrial genome. Human genomes include both protein-coding DNA sequences and various types of DNA that does not encode proteins. The latter is a diverse category that includes DNA coding for non-translated RNA, such as that for ribosomal RNA, transfer RNA, ribozymes, small nuclear RNAs, and several types of regulatory RNAs.
Depersonalization-derealization disorderDepersonalization-derealization disorder (DPDR, DPD) is a mental disorder in which the person has persistent or recurrent feelings of depersonalization and/or derealization. Depersonalization is described as feeling disconnected or detached from one's self. Individuals may report feeling as if they are an outside observer of their own thoughts or body, and often report feeling a loss of control over their thoughts or actions. Derealization is described as detachment from one's surroundings.
Polygenic scoreIn genetics, a polygenic score (PGS), also called a polygenic index (PGI), polygenic risk score (PRS), genetic risk score, or genome-wide score, is a number that summarizes the estimated effect of many genetic variants on an individual's phenotype, typically calculated as a weighted sum of trait-associated alleles. It reflects an individual's estimated genetic predisposition for a given trait and can be used as a predictor for that trait.
Childhood schizophreniaChildhood schizophrenia (also known as childhood-onset schizophrenia, and very early-onset schizophrenia) is similar in characteristics of schizophrenia that develops at a later age, but has an onset before the age of 13 years, and is more difficult to diagnose. Schizophrenia is characterized by positive symptoms that can include hallucinations, delusions, and disorganized speech; negative symptoms, such as blunted affect and avolition and apathy, and a number of cognitive impairments.
Autism therapiesAutism therapies include a wide variety of therapies that help people with autism, or their families. Such methods of therapy seek to aid autistic people in dealing with difficulties and increase their functional independence. Many therapies marketed towards autistic people and/or their parents claim outcomes that have not been supported by Level of Research (LOE) Level 1 (highest level assigned based on the methodological quality of their design, validity, and applicability to patient care).
Genetic diversityGenetic diversity is the total number of genetic characteristics in the genetic makeup of a species, it ranges widely from the number of species to differences within species and can be attributed to the span of survival for a species. It is distinguished from genetic variability, which describes the tendency of genetic characteristics to vary. Genetic diversity serves as a way for populations to adapt to changing environments. With more variation, it is more likely that some individuals in a population will possess variations of alleles that are suited for the environment.
Asperger syndromeAsperger syndrome (AS), also known as Asperger's syndrome, is a neurodevelopmental condition characterized by significant difficulties in social interaction and nonverbal communication, along with restricted and repetitive patterns of behavior and interests. The syndrome is no longer recognized as a diagnosis in itself, having been merged with other conditions into autism spectrum disorder (ASD). It was considered to differ from other diagnoses that were merged into ASD by relatively unimpaired spoken language and intelligence.
