This haplotype explained up to 26% of population variation in bone cortical volume, 12% of subcutaneous fat volume, and 9% of strength variation, resulting in a body build with large bones, strong muscles, and low subcutaneous fat. Other SNPs detect, presymptomatically, the potential for ...
Single nucleotide polymorphisms, commonly referred to as SNPs (pronounced "snips"), represent the prevailing form of genetic variation within the human genome. When a cell undergoes division to produce a new cell, it first duplicates its DNA to ensure each new cell inherits a complete set of ge...
Databases, GeneticOnline SystemsGenetic TestingGenetic Predisposition to DiseasePolymorphism, Single NucleotideThe relationship between disease susceptibility and genetic variation is complex, and many different types of data are relevant. We describe a web resource and database that provides and integrates ...
SNPs discovered by genome-wide association studies (GWASs) account for only a small fraction of the genetic variation of complex traits in human populations. Where is the remaining heritability? We estimated the proportion of variance for human height explained by 294,831 SNPs genotyped on 3,925 ...
Genes Across Multiple Populations TRANSFERABILITY OF TAG SNPS TO CAPTURE COMMON GENETIC VARIATION IN DNA REPAIR GENES ACROSS MULTIPLE POPULATIONSBakker, Paul I W DeGraham, Robert RAltshuler, DavidHenderson, Brian EHaiman, Christopher aBakker, Paul I W D E...
Code Issues Pull requests Datastructures and algorithms for working with genetic variation bioinformatics snps biology julia mutation polymorphism variation Updated Apr 20, 2023 Julia mkpython3 / Mutation-Simulator Star 37 Code Issues Pull requests A tool for simulating random mutations in any gen...
p pBackground/p pSingle nucleotide polymorphisms (SNPs) are an abundant form of genetic variation in the genome of every species and are useful for gene mapping and association studies. Of particular interest are non-synonymous SNPs, which may alter protein function and phenotype. We therefore ...
David Altshuler and colleagues report the design of a hybrid SNP-CNV genotyping array (Affymetrix SNP 6.0 Array) allowing for integrated SNP and CNV detection. They describe its application to 270 HapMap samples to compile a high-resolution map of over 1
Severe asthma is a chronic disease contributing to disproportionate disease morbidity and mortality. From the year of 2007, many genome-wide association studies (GWAS) have documented a large number of asthma-associated genetic variants and related genes
Genetic variation, gene expression and DNA methylation influence each other in a complex way. To study the impact of sequence variation and DNA methylation on gene expression, we generated geno5mC, a database that contains statistically significant SNP-CpG associations that are biologically classified...