Structural variation in the chicken genome identified by paired-end next-generation DNA sequencing of reduced representation libraries [PDF]
, 2011 Background Variation within individual genomes ranges from single nucleotide polymorphisms (SNPs) to kilobase, and even megabase, sized structural variants (SVs), such as deletions, insertions, inversions, and more complex rearrangements.
Kerstens, H.H.D. +5 more
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Germline Structural Variations in Cancer Predisposition Genes
Frontiers in Genetics, 2021 In addition to single nucleotide variations and small-scale indels, structural variations (SVs) also contribute to the genetic diversity of the genome. SVs, such as deletions, duplications, amplifications, or inversions may also affect coding regions of ...
Tímea Pócza +12 more
doaj +1 more source
Mechanisms for Structural Variation in the Human Genome [PDF]
Current Genetic Medicine Reports, 2013 It has been known for several decades that genetic variation involving changes to chromosomal structure (i.e., structural variants) can contribute to disease; however this relationship has been brought into acute focus in recent years largely based on innovative new genomics approaches and technology.
Currall, Benjamin B +3 more
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain. [PDF]
, 2018 Aging is a complex process strongly determined by genetics. Previous reports have shown that the genome of neuronal cells displays somatic genomic mosaicism including DNA copy number variations (CNVs).
Grinberg, Lea T +7 more
core +1 more source
Understanding genome structural variations
Oncotarget, 2015 Genome structural variations (SVs) in the human genome are defined as DNA sequence polymorphisms of at least a few dozen or few hundred bases in length and include deletions, duplications, inversions, translocation, retroelement insertions, and more complex rearrangements that could be thought of as consisting of multiple fragments from the just listed
Abyzov, Alexej +2 more
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Identifying Structural Variation in Haploid Microbial Genomes from Short-Read Resequencing Data Using Breseq [PDF]
, 2014 Mutations that alter chromosomal structure play critical roles in evolution and disease, including in the origin of new lifestyles and pathogenic traits in microbes.
Barrick, Jeffrey E. +8 more
core +1 more source
Pigment Intensity in Dogs is Associated with a Copy Number Variant Upstream of KITLG. [PDF]
, 2020 Dogs exhibit a wide variety of coat color types, and many genes have been identified that control pigment production, appearance, and distribution. Some breeds, such as the Nova Scotia Duck Tolling Retriever (NSDTR), exhibit variation in pheomelanin ...
Affolter, Verena +6 more
core +2 more sources
Structural Genomic Variation as Risk Factor for Idiopathic Recurrent Miscarriage [PDF]
, 2014 Peer ...
Christiansen, Ole B. +9 more
core +1 more source
CLOVE: classification of genomic fusions into structural variation events
BMC Bioinformatics, 2017 Background A precise understanding of structural variants (SVs) in DNA is important in the study of cancer and population diversity. Many methods have been designed to identify SVs from DNA sequencing data.
Jan Schröder +3 more
doaj +1 more source
Identification of structural variation in mouse genomes [PDF]
Frontiers in Genetics, 2014 Structural variation is variation in structure of DNA regions affecting DNA sequence length and/or orientation. It generally includes deletions, insertions, copy-number gains, inversions, and transposable elements. Traditionally, the identification of structural variation in genomes has been challenging.
Keane, Thomas +5 more
openaire +6 more sources