Most large genomes contain thousands of large structural variants (SVs), repetitive regions composed of identical or similar stretches of sequences, mobile elements such as transposons, large insertions, deletions, translocations, and inversions up to millions of bases, with even partial or entire chromosomes altered. (mdanderson.org)
Structural Variants (SVs) caused by the reorganization of the DNA may connect two distal fragments together leading to gene fusions and chimeric proteins when two distant genes are joined into one. (mdanderson.org)
Detects all types of Structural Variants (SVs) down to 5% Variant Allele Fraction for mosaic samples or heterogeneous cancer samples. (mdanderson.org)
A very small subset of genomic variants contributes to human health and disease. (genome.gov)
Researchers create reference human genome sequences to help detect genomic variants in each sequenced human genome. (genome.gov)
that person's set of genomic variants accounts for the ~0.4% difference. (genome.gov)
The differences among human genomes are called genomic variants. (genome.gov)
A person's set of genomic variants is part of what makes them unique. (genome.gov)
Most genomic variants have no influence on the functioning of a person's genome, but a small subset of variants do have an impact. (genome.gov)
What are the different types of genomic variants? (genome.gov)
There are multiple types of genomic variants. (genome.gov)
The smallest genomic variants are single-nucleotide variants (SNVs). (genome.gov)
A large portion of human variation, including both variants associated and not associated with disease, is driven by small scale Alu/Alu-mediated events. (technologynetworks.com)
Genomes2
An integrated map of structural variation in 2,504 human genomes. (nature.com)
Optical Genome Mapping is non-sequencing technology capable of analyzing large eukaryotic genomes and their structural features at a high resolution by evaluation of patterns generated by fluorophore tags labeled to specific sequence motifs within extremely long DNA molecules, of more than 300 kb (3, 4). (mdanderson.org)
Proteomic1
IKB contains information for human immunome genes and proteins, phylogenetic trees and evolutionary information for immunome orthologs, ortholog groups for metazoan immunome, and variation data on genomic, transcriptomic and proteomic level. (lu.se)
Transcriptomic3
We begin with an introduction to bioinformatics and omics data analysis, and conclude with the walkthrough of a simple bioinformatics workflow for aligning transcriptomic sequences with genomic data. (r-bloggers.com)
What are common file formats for transcriptomic and genomic data? (r-bloggers.com)
Become familiar with how transcriptomic and genomic data is structured. (r-bloggers.com)
Insertions1
Copy number variation results from insertions, deletions, and duplications of large segments of DNA that are at least one thousand nucleotides (also called 1 kilobase or 1kb) in length. (medlineplus.gov)
Phenotypic1
Genomic structural variation is an important and abundant source of genetic and phenotypic variation. (usda.gov)
Rearrangements4
Genomic rearrangements in Arabidopsis considered as quantitative traits. (nature.com)
CONCLUSION: Integrated paired-end NanoChIP-seq and WGS of gastric tumours reveals tumour-associated regulatory SV in regions associated with both simple and complex genomic rearrangements. (duke.edu)
Genomic rearrangements may thus exploit enhancer-hijacking as a common mechanism to drive oncogene expression in GC. (duke.edu)
To cause structural variations, pairs of elements (Alu/Alu) mediate genomic rearrangements that result in either gene copy number gains or losses, and these changes can have profound consequences for an individual's health. (technologynetworks.com)
Deletions1
Some SVs, such as deletions and duplications, change the dosage of DNA and are considered copy number variations (CNVs). (mdanderson.org)
This resource includes tools for clinical, biochemical, genetic, structural and computational analyses as well as links to related information maintained by others. (lu.se)
Genetic variation3
Structural variations are the greatest source of genetic variation, but they remain poorly understood because of technological limitations. (nature.com)
Entrez is NCBI's primary text search and retrieval system that integrates the PubMed database of biomedical literature with 38 other literature and molecular databases including DNA and protein sequence, structure, gene, genome, genetic variation and gene expression. (nih.gov)
The Howard Hughes Medical Institute discusses the results of recent research on copy number variation in the news release, Genetic Variation: We're More Different Than We Thought . (medlineplus.gov)
Genes2
Genomic comparison with human and mouse revealed a triplication of a key enzyme involved in testosterone synthesis and we discovered a small group of genes involved in early development of kidney specifically expressed in the female testis. (mpg.de)
Variation in gene copy number can influence the activity of genes and the functioning of proteins made from them, which may affect body processes. (medlineplus.gov)
Populations1
The human pangenome is a more comprehensive framework that aims to account for genomic variation across human populations, thereby reducing biases that can come with the use of a single reference human genome sequence. (genome.gov)
Molecules1
Megabase size molecules of genomic DNA are isolated and labelled at a specific 6 or 7 base pair sequence motifs. (mdanderson.org)
Gene expression1
In this work, we describe Regression2Net, a computational approach that is able to integrate gene expression and genomic or methylation data in two steps. (researchgate.net)
CNVs1
We previously reported an initial analysis of copy number variations (CNVs) in Angus cattle selected for resistance or susceptibility to gastrointestinal nematodes. (usda.gov)
Susceptibility1
This genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases. (genome.gov)
Proteins1
The Alu elements we are talking about are thought to be completely inert, they are not actively producing proteins, but problems arise when the machinery that repairs broken DNA incorrectly replicates a genomic segment flanked by a pair of repetitive Alu elements. (technologynetworks.com)
IDbases are locus-specific databases for immunodeficiency-causing variations, which contain in addition to variation information also some clinical data. (lu.se)
Detection1
On the human side, we are currently focusing on the exploitation of long-read sequencing technologies for detection of structural variations in human individuals. (mpg.de)
Human2
Lupski, J. R. Structural variation mutagenesis of the human genome: impact on disease and evolution. (nature.com)
A definition of copy number variation is included in the Talking Genome Glossary from the National Human Genome Research Institute. (medlineplus.gov)
Differences2
While much of this variation does not affect health or development, some differences influence a person's risk of disease , particularly some types of cancer, or response to certain drugs . (medlineplus.gov)
Genomic variation reflects the differences in a person's DNA compared to other peoples' DNA. (genome.gov)
Variant1
Dr. Lupski's research interest in structural variant mutagenesis has spanned decades. (technologynetworks.com)
Database1
KinMutBase is a comprehensive database of disease-causing variations in protein kinase domains. (lu.se)
Research1
This direct observation results in some of the longest read lengths in genomic research. (mdanderson.org)
Common2
Genomic sequencing analysis showed that the artificial spore-derivative hybrid is an allotriploid, which is very common among natural hybrids. (frontiersin.org)
SNVs are the most common type of genomic variation. (genome.gov)
Technologies1
As a result, Bionano mapping yields hundreds of times more contiguous assembly than sequencing technologies alone can provide with unparalleled sensitivity for large structural variations (SVs) from 500 bp to mega base pair lengths. (mdanderson.org)
Copy number variation accounts for a significant amount of genetic difference between people. (medlineplus.gov)
Copy1
More information about copy number variation is available in a video from Cold Spring Harbor Laboratory. (medlineplus.gov)
Elements1
OBJECTIVE: Genomic structural variations (SVs) causing rewiring of cis-regulatory elements remain largely unexplored in gastric cancer (GC). (duke.edu)
Comprehensive1
Despite this progress, no study to date has performed comprehensive sequencing on a pediatric MDS cohort to fully understand somatic and germline variation in this neoplasm. (nature.com)