Cell Reports, 2021 Summary: The global impact of somatic structural variants (SVs) on gene regulation in advanced tumors with complex treatment histories has been mostly uncharacterized.
Yiqun Zhang +10 more
doaj +1 more source
Cataloging Plant Genome Structural Variations [PDF]
Current Issues in Molecular Biology, 2017 Structural variation (SV) is a type of genetic variation identified through the comparison of genome structures which often have direct and significant associations with phenotypic variations. Building on the next generation sequencing (NGS) technologies, research on plant structural variations are gaining momentum and have revolutionized our view on ...
Xingtan, Zhang +3 more
openaire +3 more sources
The evolutionary dynamics of variant antigen genes in Babesia reveal a history of genomic innovation underlying host-parasite interaction [PDF]
, 2014 Babesia spp. are tick-borne, intraerythrocytic hemoparasites that use antigenic variation to resist host immunity, through sequential modification of the parasite-derived variant erythrocyte surface antigen (VESA) expressed on the infected red blood cell
Allred, David R. +30 more
core +6 more sources
Patterns of structural variation define prostate cancer across disease states
JCI Insight, 2022 The complex genomic landscape of prostate cancer evolves across disease states under therapeutic pressure directed toward inhibiting androgen receptor (AR) signaling.
Meng Zhou +17 more
doaj +1 more source
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism [PDF]
, 2016 Copy number variation (CNV) is a potential contributing factor to many genetic diseases. Here we investigated the potential association of CNV with nonsyndromic cryptorchidism, the most common male congenital genitourinary defect, in a Caucasian ...
Abrams, Debra J. +17 more
core +1 more source
Insights into structural variations and genome rearrangements in prokaryotic genomes [PDF]
Bioinformatics, 2014 Abstract Structural variations (SVs) are genomic rearrangements that affect fairly large fragments of DNA. Most of the SVs such as inversions, deletions and translocations have been largely studied in context of genetic diseases in eukaryotes. However, recent studies demonstrate that genome rearrangements can also have profound impact on
Vinita Periwal, Vinod Scaria
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Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation. [PDF]
, 2016 Genomic sequence interpretation can miss clinically relevant missense variants for several reasons. Rare missense variants are numerous in the exome and difficult to prioritise. Affected genes may also not have existing disease association.
Dumas, Kevin +13 more
core +2 more sources
Genome maps across 26 human populations reveal population-specific patterns of structural variation. [PDF]
, 2019 Large structural variants (SVs) in the human genome are difficult to detect and study by conventional sequencing technologies. With long-range genome analysis platforms, such as optical mapping, one can identify large SVs (>2 kb) across the genome in ...
Cao, Han +25 more
core +2 more sources
Genomic heterogeneity and structural variation in soybean near isogenic lines
Frontiers in Plant Science, 2013 Near-isogenic lines (NILs) are a critical genetic resource for the soybean research community. The ability to identify and characterize the genes driving the phenotypic differences between NILs is limited by the degree to which differential genetic ...
Adrian O. Stec +11 more
doaj +1 more source
Structural Genome Variations Related to Craniosynostosis [PDF]
Molecular Syndromology, 2018 Craniosynostosis refers to a condition during early development in which one or more of the fibrous sutures of the skull prematurely fuse by turning into bone, which produces recognizable patterns of cranial shape malformations depending on which suture(s) are affected.
openaire +2 more sources