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
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
CARAT: A novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays [PDF]
, 2006 Background DNA copy number alterations are one of the main characteristics of the cancer cell karyotype and can contribute to the complex phenotype of these cells.
Ishikawa Shumpei +10 more
core +1 more source
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
"Per cell" normalization method for mRNA measurement by quantitative PCR and microarrays [PDF]
, 2006 Background Transcriptome data from quantitative PCR (Q-PCR) and DNA microarrays are typically obtained from a fixed amount of RNA collected per sample.
Jun Kanno +6 more
core +2 more sources
A robust penalized method for the analysis of noisy DNA copy number data [PDF]
, 2010 Background Deletions and amplifications of the human genomic DNA copy number are the causes of numerous diseases, such as, various forms of cancer. Therefore, the detection of DNA copy number variations (CNV) is important in understanding the genetic ...
Xiaoli Gao, Jian Huang
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
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