Results 11 to 20 of about 1,761,319 (295)

Copy number variation in bipolar disorder [PDF]

Molecular Psychiatry, 2015
Large (>100 kb), rare (500 kb) CNVs in BD compared with SZ, most notably for deletions >1 Mb (P=9 × 10(-4)).
K-G Smith, Jennifer L. Moran, Ian Jones, Kimberly Chambert, Stephan Ripke, Stephan Ripke, Pamela Sklar, Michael John Owen, Michael Conlon O'Donovan, Elaine K. Green, James T.R. Walters, George Kirov, Liz Forty, Lisa Jones, Elliott Rees, Giulio Genovese, Nicholas John Craddock, Steven A. McCarroll, Detelina Grozeva   +18 more
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Human subtelomeric copy number variations [PDF]

Cytogenetic and Genome Research, 2008
Copy number variation is a defining characteristic of human subtelomeres. Human subtelomeric segmental duplication regions (‘Subtelomeric Repeats’) comprise about 25% of the most distal 500 kb and 80% of the most distal 100 kb in human DNA. Huge allelic disparities seen in subtelomeric DNA sequence content and organization are postulated to have an ...
Harold Riethman
openalex   +4 more sources

Comprehensively benchmarking applications for detecting copy number variation.

PLoS Computational Biology, 2019
MOTIVATION:Recently, copy number variation (CNV) has gained considerable interest as a type of genomic variation that plays an important role in complex phenotypes and disease susceptibility.
Le Zhang, Wanyu Bai, Na Yuan, Zhenglin Du   +3 more
doaj   +2 more sources

Mitochondrial DNA copy number variation across human cancers [PDF]

eLife, 2016
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are observed throughout cancers. Here, we survey mtDNA copy number variation across 22 tumor types profiled by The Cancer Genome Atlas project.
Ed Reznik, Martin L Miller, Yasin Şenbabaoğlu, Nadeem Riaz, Judy Sarungbam, Satish K Tickoo, Hikmat A Al-Ahmadie, William Lee, Venkatraman E Seshan, A Ari Hakimi, Chris Sander   +10 more
doaj   +3 more sources

Rare copy number variation in autoimmune Addison’s disease [PDF]

Frontiers in Immunology
Autoimmune Addison’s disease (AAD) is a rare but life-threatening endocrine disorder caused by an autoimmune destruction of the adrenal cortex. A previous genome-wide association study (GWAS) has shown that common variants near immune-related genes ...
Haydee Artaza, Haydee Artaza, Daniel Eriksson, Daniel Eriksson, Ksenia Lavrichenko, Ksenia Lavrichenko, Maribel Aranda-Guillén, Eirik Bratland, Eirik Bratland, Eirik Bratland, Marc Vaudel, Marc Vaudel, Marc Vaudel, Per Knappskog, Per Knappskog, Eystein S. Husebye, Eystein S. Husebye, Sophie Bensing, Sophie Bensing, Anette S. B. Wolff, Anette S. B. Wolff, Anette S. B. Wolff, Olle Kämpe, Ellen C. Røyrvik, Ellen C. Røyrvik, Ellen C. Røyrvik, Stefan Johansson, Stefan Johansson   +27 more
doaj   +2 more sources

Copy number variation map [PDF]

Nature Reviews Genetics, 2006
Magdalena Skipper
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GENESPACE tracks regions of interest and gene copy number variation across multiple genomes

eLife, 2022
The development of multiple chromosome-scale reference genome sequences in many taxonomic groups has yielded a high-resolution view of the patterns and processes of molecular evolution.
J. Lovell, A. Sreedasyam, M. Schranz, M. Wilson, J. Carlson, A. Harkess, David M. Emms, D. Goodstein, J. Schmutz   +8 more
semanticscholar   +1 more source

The Dynamic Fungal Genome: Polyploidy, Aneuploidy and Copy Number Variation in Response to Stress

Annual Review of Microbiology, 2023
Fungal species have dynamic genomes and often exhibit genomic plasticity in response to stress. This genome plasticity often comes with phenotypic consequences that affect fitness and resistance to stress.
Pétra Vande Zande, Xiaoping Zhou, Anna Selmecki   +2 more
semanticscholar   +1 more source

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction

BMC Pregnancy and Childbirth, 2022
Background Congenital gastrointestinal obstruction (CGIO) mainly refers to the stenosis or atresia of any part from the esophagus to the anus and is one of the most common surgical causes in the neonatal period.
Xinyue Meng, Lili Jiang
doaj   +1 more source

Copy Number Variations and Schizophrenia

Molecular Neurobiology, 2022
Abstract Schizophrenia is a neurodevelopmental disorder with genetic and environmental factors involved in its aetiology. Genetic liability contributing to the development of schizophrenia is a subject of extensive research activity, as reliable data regarding its aetiology would enable the improvement of its therapy and the development of new methods ...
Kamila Szecówka, Błażej Misiak, Izabela Łaczmańska, Dorota Frydecka, Ahmed A. Moustafa   +4 more
openaire   +3 more sources