Results 31 to 40 of about 200,918 (285)
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
BMC Genomics, 2010 Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Kim Hyung-Lae +6 more
doaj +1 more source
Insights regarding mitochondrial DNA copy number alterations in human cancer
International Journal of Molecular Medicine, 2022 Mitochondria are the critical organelles involved in various cellular functions. Mitochondrial biogenesis is activated by multiple cellular mechanisms which require a synchronous regulation between mitochondrial DNA (mtDNA) and nuclear DNA (nDNA).
Siti Muslihah Abd Radzak +5 more
semanticscholar +1 more source
Mitochondrial DNA Copy Number and Developmental Origins of Health and Disease (DOHaD)
International Journal of Molecular Sciences, 2021 Mitochondrial dysfunction is known to contribute to mitochondrial diseases, as well as to a variety of aging-based pathologies. Mitochondria have their own genomes (mitochondrial DNA (mtDNA)) and the abnormalities, such as point mutations, deletions, and
Hisanori Fukunaga
semanticscholar +1 more source
Quantification of Plasmid Copy Number with Single Colour Droplet Digital PCR. [PDF]
PLoS ONE, 2017 Bacteria can be considered as biological nanofactories that manufacture a cornucopia of bioproducts most notably recombinant proteins. As such, they must perfectly match with appropriate plasmid vectors to ensure successful overexpression of target genes.
Magdalena Plotka +2 more
doaj +1 more source
Large scale variation in DNA copy number in chicken breeds [PDF]
BMC Genomics, 2013 Detecting genetic variation is a critical step in elucidating the molecular mechanisms underlying phenotypic diversity. Until recently, such detection has mostly focused on single nucleotide polymorphisms (SNPs) because of the ease in screening complete genomes.
Crooijmans, Richard +7 more
openaire +4 more sources
Sequential Model Selection-Based Segmentation to Detect DNA Copy Number Variation [PDF]
Biometrics, 2016 Summary Array-based CGH experiments are designed to detect genomic aberrations or regions of DNA copy-number variation that are associated with an outcome, typically a state of disease. Most of the existing statistical methods target on detecting DNA copy number variations in a single sample or array.
Hu, Jianhua +2 more
openaire +3 more sources
DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects
Biomedical Journal, 2021 Copy number variants (CNVs) were the subject of extensive research in the past years. They are common features of the human genome that play an important role in evolution, contribute to population diversity, development of certain diseases, and influence host-microbiome interactions.
Pös, Ondrej +6 more
openaire +3 more sources
Frontiers in Genetics, 2021 BackgroundThe lack of understanding of molecular pathologies of the solitary functioning kidney makes improving and strengthening the continuity of care between pediatric and adult nephrological patients difficult.
Xiao Y. Zhou +8 more
doaj +1 more source
Chromosomal Microarray Detection of Constitutional Copy Number Variation Using Saliva DNA [PDF]
The Journal of Molecular Diagnostics, 2017 Chromosomal microarray (CMA) testing to detect copy number aberrations among individuals with multiple congenital anomalies and/or developmental delay is typically performed on peripheral blood DNA. However, the use of saliva DNA may be preferred for some patients, which prompted our validation study using six saliva DNA samples with a range of ...
Jennifer, Reiner +5 more
openaire +2 more sources