نتایج جستجو برای: dna copy number variations

تعداد نتایج: 1804615  

Journal: :The American Journal of Human Genetics 2015

Journal: :The American Journal of Human Genetics 2007

Journal: :Cytogenetic and genome research 2008
H Riethman

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 impact on the dosage of transcripts embedded w...

2007
Jayne Y. Hehir-Kwa Michael Egmont-Petersen Irene M. Janssen Dominique Smeets Ad Geurts van Kessel Joris A. Veltman

Recently, comparative genomic hybridization onto bacterial artificial chromosome (BAC) arrays (array-based comparative genomic hybridization) has proved to be successful for the detection of submicroscopic DNA copy-number variations in health and disease. Technological improvements to achieve a higher resolution have resulted in the generation of additional microarray platforms encompassing lar...

2012
Biao Fan Somkid Dachrut Ho Coral Siu Tsan Yuen Kent Man Chu Simon Law Lianhai Zhang Jiafu Ji Suet Yi Leung Xin Chen

BACKGROUND Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined. It remains unknown how the DNA copy number variations contributes to the changes of gene expression profiles, especially on the global level. PRINCIPAL FINDI...

Journal: :BMC Bioinformatics 2009

2016
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

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. We observe a tendency for some cancers, especially of the bladder, breast, and kidney, to be depleted of mtDNA, relative to matched normal tissue. Analysis of genetic context...

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