Using GWAS Data to Identify Copy Number Variants Contributing to Common Complex Diseases
, 2010 Copy number variants (CNVs) account for more polymorphic base pairs in the human genome than do single nucleotide polymorphisms (SNPs). CNVs encompass genes as well as noncoding DNA, making these polymorphisms good candidates for functional variation ...
Teslovich, Tanya M., Zöllner, Sebastian
core +1 more source
Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]
, 2019 Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J +21 more
core +2 more sources
Adhesion failures determine the pattern of choroidal neovascularization in the eye: a computer simulation study. [PDF]
PLoS Computational Biology, 2012 Choroidal neovascularization (CNV) of the macular area of the retina is the major cause of severe vision loss in adults. In CNV, after choriocapillaries initially penetrate Bruch's membrane (BrM), invading vessels may regress or expand (CNV initiation ...
Abbas Shirinifard +6 more
doaj +1 more source
WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. [PDF]
, 2013 MotivationCopy number variations (CNVs) are a major source of genomic variability and are especially significant in cancer. Until recently microarray technologies have been used to characterize CNVs in genomes.
Ali, Johar +11 more
core +3 more sources
CNVs in neurodevelopmental disorders
Oncotarget, 2015 Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than a million bases in size, and are likely to play a role in phenotypic diversity and evolution. Recent advances in the identification and mapping of CNVs among normal individuals and in model systems, using bioinformatics and ...
Chun-Ting, Lee +2 more
openaire +2 more sources
KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer
Molecular Oncology, EarlyView.Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan +16 more
wiley +1 more source
Molecular Oncology, EarlyView.Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena +15 more
wiley +1 more source
Multimodal imaging of laser-induced choroidal neovascularization in pigmented rabbits
Scientific Reports, 2023 This study aimed to demonstrate longitudinal multimodal imaging of laser photocoagulation-induced choroidal neovascularization (CNV) in pigmented rabbits. Six Dutch Belted pigmented rabbits were treated with 12 laser lesions in each eye at a power of 300
Van Phuc Nguyen +5 more
doaj +1 more source
Spinless Topological Insulators without Time-Reversal Symmetry
, 2014 We explore the 32 crystallographic point groups and identify topological phases of matter with robust surface modes. For n =3,4 and 6 of the C_{nv} groups, we find the first-known 3D topological insulators without spin-orbit coupling, and with surface ...
Alexandradinata, A. +3 more
core +1 more source
Performance of four modern whole genome amplification methods for copy number variant detection in single cells [PDF]
, 2017 Whole genome amplification (WGA) has become an invaluable tool to perform copy number variation (CNV) detection in single, or a limited number of cells.
Cornelis, Senne +5 more
core +1 more source