Results 11 to 20 of about 11,641,417 (251)
Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer. [PDF]
PLoS ONE, 2012 BACKGROUND: Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined.
Biao Fan +9 more
doaj +3 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
BMC Bioinformatics, 2012 Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang +2 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson +6 more
doaj +1 more source
European Journal of Medical Research, 2021 Background Since 2011, screening maternal blood for cell-free foetal DNA (cffDNA) fragments has offered a robust clinical tool to classify pregnancy as low or high-risk for Down, Edwards, and Patau syndromes. With recent advances in molecular biology and
Taccyanna M. Ali +9 more
doaj +1 more source
Genome Architecture and Its Roles in Human Copy Number Variation [PDF]
Genomics & Informatics, 2014 Besides single-nucleotide variants in the human genome, large-scale genomic variants, such as copy number variations (CNVs), are being increasingly discovered as a genetic source of human diversity and the pathogenic factors of diseases.
Lu Chen +3 more
doaj +1 more source
Acta Dermato-Venereologica, 2021 Biological drugs targeting tumour necrosis factor are effective for psoriasis. However, 30–50% of patients do not respond to these drugs and may even develop paradoxical psoriasiform reactions.
Ancor Sanz-Garcia +11 more
doaj +1 more source
Effect of Combining Multiple CNV Defining Algorithms on the Reliability of CNV Calls from SNP Genotyping Data [PDF]
Genomics & Informatics, 2012 In addition to single-nucleotide polymorphisms (SNP), copy number variation (CNV) is a major component of human genetic diversity. Among many whole-genome analysis platforms, SNP arrays have been commonly used for genomewide CNV discovery.
Soon-Young Kim +2 more
doaj +1 more source
Identifying Copy Number Variations based on Next Generation Sequencing Data by a Mixture of Poisson Model [PDF]
, 2010 Next generation sequencing (NGS) technologies have profoundly impacted biological research and are becoming more and more popular due to cost effectiveness and their speed.
Andreas Mayr +4 more
core +1 more source
Identifying Copy Number Variants under Selection in Geographically Structured Populations Based on -statistics [PDF]
Genomics & Informatics, 2012 Large-scale copy number variants (CNVs) in the human provide the raw material for delineating population differences, as natural selection may have affected at least some of the CNVs thus far discovered.
Hae-Hiang Song +3 more
doaj +1 more source
Copy number variants and selective sweeps in natural populations of the house mouse (Mus musculus domesticus) [PDF]
, 2014 Copy–number variants (CNVs) may play an important role in early adaptations, potentially facilitating rapid divergence of populations. We describe an approach to study this question by investigating CNVs present in natural populations of mice in the ...
Diethard eTautz +7 more
core +1 more source