Results 11 to 20 of about 3,549,870 (295)

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

open access: yesFrontiers 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   +6 more
doaj   +1 more source

Copy number variation in Thai population. [PDF]

open access: yesPLoS 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   +12 more
doaj   +1 more source

Plasmid copy number underlies adaptive mutability in bacteria. [PDF]

open access: yes, 2014
The origin of mutations under selection has been intensively studied using the Cairns-Foster system, in which cells of an Escherichia coli lac mutant are plated on lactose and give rise to 100 Lac+ revertants over several days. These revertants have been
Aboubechara, John Paul   +4 more
core   +1 more source

New copy number variations in schizophrenia. [PDF]

open access: yesPLoS 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   +8 more
doaj   +1 more source

Performance evaluation of DNA copy number segmentation methods [PDF]

open access: yes, 2014
A number of bioinformatic or biostatistical methods are available for analyzing DNA copy number profiles measured from microarray or sequencing technologies.
Neuvial, Pierre   +2 more
core   +3 more sources

Bayesian DNA copy number analysis

open access: yesBMC 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   +3 more
doaj   +1 more source

Association test using Copy Number Profile Curves (CONCUR) enhances power in rare copy number variant analysis.

open access: yesPLoS Computational Biology, 2020
Copy number variants (CNVs) are the gain or loss of DNA segments in the genome that can vary in dosage and length. CNVs comprise a large proportion of variation in human genomes and impact health conditions.
Amanda Brucker   +11 more
doaj   +1 more source

Mitochondrial DNA Copy Number Is Associated with Breast Cancer Risk [PDF]

open access: yes, 2013
Mitochondrial DNA (mtDNA) copy number in peripheral blood is associated with increased risk of several cancers. However, data from prospective studies on mtDNA copy number and breast cancer risk are lacking.
AX Fan   +41 more
core   +3 more sources

Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]

open access: yes, 2012
The variation in DNA copy number carries information on the modalities of genome evolution and misregulation of DNA replication in cancer cells; its study can be helpful to localize tumor suppressor genes, distinguish different populations of cancerous ...
Lange, Kenneth   +2 more
core   +4 more sources

WaveCNV: allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing. [PDF]

open access: yes, 2013
MotivationCopy number variations (CNVs) are a major source of genomic variability and are especially significant in cancer. Until recently microarray technologies have been used to characterize CNVs in genomes.
Ali, Johar   +11 more
core   +3 more sources

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