Everything about Variome
Set of genetic variations in populations
The variome is the whole set of genetic variations found in populations of species that have gone through a relatively short evolution change. For example, among humans, about 1 in every 1,200 nucleotide bases differ. The size of human variome in terms of effective population size is claimed to be about 10,000 individuals. This variation rate is comparatively small compared to other species. For example, the effective population size of tigers which perhaps has the whole population size less than 10,000 in the wild is not much smaller than the human species indicating a much higher level of genetic diversity although they are close to extinction in the wild. In practice, the variome can be the sum of the single nucleotide polymorphisms (SNPs), indels, and structural variation (SV) of a population or species. The Human Variome Project seeks to compile this genetic variation data worldwide. Variomics is the study of variome and a branch of bioinformatics. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: VariomeA 5-minute orientation
- Skim a recent paper: The impact of the Turkish population variome on the genomic architecture of rare disease traitsInfluential work since 2022
- Read the landmark paper: LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypesCited 101 times
- Go sideways: Single-nucleotide polymorphismA closely related topic
- Go sideways: DbSNPA closely related topic
📖 Definitions
Noun All the genetic variations that have occurred in the evolution of a species
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
LAMA2gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes
Expanding the phenome and variome of skeletal dysplasia
Pepper variome reveals the history and key loci associated with fruit domestication and diversification
Genome resequencing and comparative variome analysis in a Brassica rapa and Brassica oleracea collection
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
The Human Variome Project
KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses
Human Variome Project: an International Collaboration to Catalogue Human Genetic Variation
🆕 Influential since 2022
The impact of the Turkish population variome on the genomic architecture of rare disease traits
A variome–transcriptome–metabolome network links GABA biosynthesis to stress resilience in maize
Methyl-SNP-seq reveals dual readouts of methylome and variome at molecule resolution while enabling target enrichment
Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD
Cotton transposon-related variome reveals roles of transposon-related variations in modern cotton cultivation
📚 Books worth reading
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🔗 Related topics
- Single-nucleotide polymorphism In genetics and bioinformatics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at…
- DbSNP The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted…
- International HapMap Project The International HapMap Project is an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns…
- SNP array In molecular biology, SNP array is a type of DNA microarray which is used to detect polymorphisms within a population. A single nucleotide polymorphism…
- Functional element SNPs database The Functional Element SNPs Database (FESD) is a biological database of single nucleotide polymorphisms in molecular biology. The database is a tool designed…
- Minor allele frequency Minor allele frequency (MAF) is the frequency at which the second most common allele occurs in a given population. They play a surprising role in heritability…
- Human genetic variation Human genetic variation is the genetic differences in and among populations. There may be multiple variants of any given gene in the human population (alleles)…
- SNP annotation Single nucleotide polymorphism annotation (SNP annotation) is the process of predicting the effect or function of an individual SNP using SNP annotation…