DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer [PDF]
, 2017 Genetic heterogeneity between and within tumours is a major factor determining cancer progression and therapy response. Here we examined DNA sequence and DNA copy-number heterogeneity in colorectal cancer (CRC) by targeted high-depth sequencing of 100 ...
Aust, Daniela +6 more
core +1 more source
A normalization technique for next generation sequencing experiments [PDF]
, 2010 Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular.
Andreas Mayr +4 more
core +3 more sources
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
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
Germline copy number variation in the YTHDC2 gene: does it have a role in finding a novel potential molecular target involved in pancreatic adenocarcinoma susceptibility? [PDF]
, 2014 Objective: The vast majority of pancreatic cancers occurs sporadically. The discovery of frequent variations in germline gene copy number can significantly influence the expression levels of genes that predispose to pancreatic adenocarcinoma.
BAZAN, Viviana +11 more
core +1 more source
Abnormal plasma DNA profiles in early ovarian cancer using a non-invasive prenatal testing platform: Implications for cancer screening [PDF]
, 2016 Background: Non-invasive prenatal testing (NIPT) identifies fetal aneuploidy by sequencing cell-free DNA in the maternal plasma. Pre-symptomatic maternal malignancies have been incidentally detected during NIPT based on abnormal genomic profiles.
Cohen, P +5 more
core +2 more sources
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
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
Genomic aberrations in normal tissue adjacent to HER2-amplified breast cancers: field cancerization or contaminating tumor cells? [PDF]
, 2012 Field cancerization effects as well as isolated tumor cell foci extending well beyond the invasive tumor margin have been described previously to account for local recurrence rates following breast conserving surgery despite adequate surgical margins and
Benz, Christopher C +8 more
core +2 more sources