Results 1 to 10 of about 798,133 (118)

ctDNA monitoring using tumor-informed copy number analysis [PDF]

EMBO Molecular Medicine
Methods to detect circulating tumor DNA (ctDNA) enable minimally invasive responsive monitoring of cancer dynamics. However, sensitive and cost-effective methods are still lacking.
Ze Zhou, Ros Cutts, Sarah Hrebien, Christina X Zhang, Isaac Garcia‑Murillas, Woody Z Zhang, Alexander M Frankell, Wendy N Cooper, Amit Roshan, Nicholas C Turner, Tommy Kaplan, Nitzan Rosenfeld, Hui Zhao   +12 more
doaj   +2 more sources

Signatures of Discriminative Copy Number Aberrations in 31 Cancer Subtypes

Frontiers in Genetics, 2021
Copy number aberrations (CNA) are one of the most important classes of genomic mutations related to oncogenetic effects. In the past three decades, a vast amount of CNA data has been generated by molecular-cytogenetic and genome sequencing based methods.
Bo Gao, Bo Gao, Michael Baudis, Michael Baudis   +3 more
doaj   +1 more source

Genetic association studies of copy-number variation: should assignment of copy number states precede testing? [PDF]

PLoS ONE, 2012
Recently, structural variation in the genome has been implicated in many complex diseases. Using genomewide single nucleotide polymorphism (SNP) arrays, researchers are able to investigate the impact not only of SNP variation, but also of copy-number ...
Patrick Breheny, Prabhakar Chalise, Anthony Batzler, Liewei Wang, Brooke L Fridley   +4 more
doaj   +1 more source

Functional copy-number alterations in cancer. [PDF]

PLoS ONE, 2008
Understanding the molecular basis of cancer requires characterization of its genetic defects. DNA microarray technologies can provide detailed raw data about chromosomal aberrations in tumor samples.
Barry S Taylor, Jordi Barretina, Nicholas D Socci, Penelope Decarolis, Marc Ladanyi, Matthew Meyerson, Samuel Singer, Chris Sander   +7 more
doaj   +1 more source

Comparing copy-number profiles under multi-copy amplifications and deletions

BMC Genomics, 2020
Background During cancer progression, malignant cells accumulate somatic mutations that can lead to genetic aberrations. In particular, evolutionary events akin to segmental duplications or deletions can alter the copy-number profile (CNP) of a set of ...
Garance Cordonnier, Manuel Lafond
doaj   +1 more source

New copy number variations in schizophrenia. [PDF]

PLoS ONE, 2010
Genome-wide screenings for copy number variations (CNVs) in patients with schizophrenia have demonstrated the presence of several CNVs that increase the risk of developing the disease and a growing number of large rare CNVs; the contribution of these ...
Chiara Magri, Emilio Sacchetti, Michele Traversa, Paolo Valsecchi, Rita Gardella, Cristian Bonvicini, Alessandra Minelli, Massimo Gennarelli, Sergio Barlati   +8 more
doaj   +1 more source

Copy number variants in Ebstein anomaly. [PDF]

PLoS ONE, 2017
Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with
Andreas Giannakou, Robert J Sicko, Wei Zhang, Paul Romitti, Marilyn L Browne, Michele Caggana, Lawrence C Brody, Laura Jelliffe-Pawlowski, Gary M Shaw, Denise M Kay, James L Mills   +10 more
doaj   +1 more source

Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing

Frontiers in Endocrinology, 2023
IntroductionEmbryonic chromosomal abnormalities represent a major causative factor in early pregnancy loss, highlighting the importance of understanding their role in spontaneous abortion.
Wei Bai, Qi Zhang, Zhi Lin, Jin Ye, Xiaoqi Shen, Linshuang Zhou, Wenpin Cai   +6 more
doaj   +1 more source

Copy number variation in Thai population. [PDF]

PLoS ONE, 2014
Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation.
Bhoom Suktitipat, Chaiwat Naktang, Wuttichai Mhuantong, Thitima Tularak, Paramita Artiwet, Ekawat Pasomsap, Wallaya Jongjaroenprasert, Suthat Fuchareon, Surakameth Mahasirimongkol, Wasan Chantratita, Boonsit Yimwadsana, Varodom Charoensawan, Natini Jinawath   +12 more
doaj   +1 more source

Bayesian DNA copy number analysis

BMC Bioinformatics, 2009
Background Some diseases, like tumors, can be related to chromosomal aberrations, leading to changes of DNA copy number. The copy number of an aberrant genome can be represented as a piecewise constant function, since it can exhibit regions of deletions ...
Hutter Marcus, Rancoita Paola MV, Bertoni Francesco, Kwee Ivo   +3 more
doaj   +1 more source