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
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
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
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
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 +2 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
Genome reorganization in different cancer types: detection of cancer specific breakpoint regions [PDF]
, 2019 Background: Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions that are prone to the ...
Klein, Andreas +3 more
core +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
A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds [PDF]
, 2013 The Human Genetic Cell Repository sponsored by the National Institute of General Medical Sciences (NIGMS) contains more than 11,000 cell lines and DNA samples collected from numerous individuals.
Beiswanger, Christine +9 more
core +2 more sources
Identification of Ethnically Specific Genetic Variations in Pan-Asian Ethnos [PDF]
Genomics & Informatics, 2014 Asian populations contain a variety of ethnic groups that have ethnically specific genetic differences. Ethnic variants may be highly relevant in disease and human differentiation studies.
Jin Ok Yang +7 more
doaj +1 more source