a germline substitution of a single nucleotide at a specific position, affecting a large proportion of the population (generally >1%)

a single nucleotide substitution that is usually uncommon in the population

An addition or removal of bases to the genome of an organism; a major source of structural variation in genomes

repeat sequence of 1+ nucleotides where the repeats are adjacent to each other

a tandem repeat where variations in the length are seen between individuals, allowing them to be used for DNA fingerprinting and forensics

repeat sections of the genome are repeated different numbers of times between individuals, through deletion or duplication affecting a significant number of base pairs

loss of nucleotides from the genome

creation of new genetic material through copying an existing series of nucleotides or gene(s)

flipping a section of the genome, reversing the order of nucleotides of a section of the genome

a variation in chromosomal structure, either a missing, extra, or irregular chromosome

aneuploidy resulting in a single chromosome where there should be a pair

the presence of an abnormal number of chromosomes in a cell

three chromosomes where there should be two

a group of alleles inherited together from a single parent

a measure of the non-random association between alleles, at different loci, in a given population; compares the frequency two alleles are detected at the same loci with the frequency each allele is detected (alone or together) at the same loci. This measure is valid where the frequency of being detected together is higher or lower than expected if the two alleles were under independent segregation

an area of an organism’s genome where genetic recombination rarely occurs, showing high levels of linkage disequilibrium; boundaries cannot be directly observed, bioinformatic approaches are necessary

a project aiming to develop a haplotype map of the human genome, describing common human variations; aimed to identify genetic variants that affect health, disease, and drug responses

research project aiming to catalogue human genetic variation, sequencing the genomes of 1000 individuals from different ethnic groups

research project that sequenced 100,000 genomes from patients in the UK, focusing on rare diseases and cancers to improve understanding of causes and treatments

UK study analysing biological samples and healthcare data on 0.5 million participants; aims to discover improved ways to prevent, diagnose, and treat diseases

research project in the US investigating personalised medical care through phenotypic and genotypic study

a method to transform highly complex datasets into 2 or 3 dimensions, allowing data sets with many observations to be simplified for pattern analysis

a technique of dimensionality reduction, transforming data onto 2 or 3 coordinates, capturing the greatest variation that can be identified

project aiming to create a reference human genome sequence incorporating the genetic diversity observed across all populations