• The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. (blogspot.com)
  • If an eQTL is mapped to a genomic region where the eTrait gene is located, it may suggest the cis -regulatory mechanism for the eQTL, i.e. , certain sequence variations around the gene region of the eTrait may directly influence the transcript abundance of the gene. (biomedcentral.com)
  • Structural variation in the human genome is operationally defined as genomic alterations, varying between individuals, that involve DNA segments larger than 1 kilo base (kb), and could be either microscopic or submicroscopic. (wikipedia.org)
  • To assess the effect of gene flow on population differentiation in SSA, we masked Eurasian ancestry across the genome (Supplementary Methods and Supplementary Note 6). (blogspot.com)
  • There are many sources of systematic variation in cDNA microarray experiments which affect the measured gene expression levels (e.g. differences in labeling efficiency between the two fluorescent dyes). (psu.edu)
  • A website is provided for querying the sPta717 genome by gene model or homology search. (springer.com)
  • In applying this test to several thousand human-chimpanzee gene orthologs, I show that such variation clusters are not generally caused by relaxed selection. (genetics.org)
  • We propose that recombination in the common gene space greatly amplifies the variability produced by the retrotransposition explosion in the maize ancestry, creating the heterogeneity in genome organization found in modern maize. (pnas.org)
  • Expression profiling and genome-wide mapping studies have shown that strong heritable factors govern differences in gene expression levels within mammalian species such as the mouse and human ( 1 , 2 ). (sciencemag.org)
  • Whereas heritable expression differences resulting from trans-acting mechanisms appear to be quantitatively more important, cis-acting variation may explain up to 25 to 35% of interindividual differences in gene expression. (sciencemag.org)
  • In the trio design, high sequence coverage and the use of multiple platforms enable accurate discovery of multiple variant types across most of the genome, with Mendelian transmission aiding genotype estimation, inference of haplotypes and quality control. (nih.gov)
  • Using the routinely transformed genotype Populus tremula × alba 717-1B4 as a test case, we utilized established variant-calling pipelines with affordable re-sequencing (~20×) and publicly available transcriptome data to generate a variant-substituted custom genome (sPta717). (springer.com)
  • The human genome sequence in our DNA contains three billion base pairs of four chemical building blocks Ð adenine, thymine, cytosine, and guanine (A, T, C, G), strung together in different combinations in long chains within 23 pairs of chromosomes. (eurekalert.org)
  • This unusual format encouraged cross-fertilization of ideas among population, quantitative and human geneticists as well as epidemiologists and genome scientists. (biomedcentral.com)
  • A comprehensive platform for Indian Genome Variation (IGV) data management, analysis and creation of IGVdb portal has also been developed. (blogspot.com)
  • Extrapolating from existing data, Daly concluded that a density of one SNP marker every 5 kilobases should be sufficient to tag around 80% of human variation. (biomedcentral.com)
  • DePristo MA et al (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. (springer.com)
  • We gathered these data, and identified variations using our standard computational pipeline. (big.ac.cn)
  • The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. (hgvs.org)
  • While as much effort as possible has been made to ensure that this Website is of high quality, the Human Genome Variation Society formerly the HUGO Mutation Database Initiative makes no warranty, expressed or implied, as to the accuracy of the information or its suitability for any specific purpose. (hgvs.org)
  • We analysed nuclear genome size in a phylogenetic framework and assessed relationships between genome size and life form (perennials vs annuals/biennials) and the consequences of insular vs continental distribution. (springer.com)
  • The cat genome will further facilitate research in human medicine as some rare diseases that occur in humans also occur in this popular pet. (big.ac.cn)
  • The INDEL research, led by Scott Devine, PhD, assistant professor of biochemistry at Emory University School of Medicine, has been posted online and will be published in the September issue of the journal Genome Research. (eurekalert.org)