Results 71 to 80 of about 790,983 (253)

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

Genetics in Medicine, 2018
We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders.
R. Truty, Joshua S. Paul, M. Kennemer, S. Lincoln, Eric C. Olivares, R. Nussbaum, S. Aradhya   +6 more
semanticscholar   +1 more source

Web-Based Database and Viewer of East Asian Copy Number Variations [PDF]

Genomics & Informatics, 2012
We have discovered copy number variations (CNVs) in 3,578 Korean individuals with the Affymetrix Genome-Wide SNP array 5.0, and 4,003 copy number variation regions (CNVRs) were defined in a previous study. To explore the details of the variants easily in
Ji-Hong Kim, Hae-Jin Hu, Yeun-Jun Chung
doaj   +1 more source

Whole-genome sequencing reveals high complexity of copy number variation at insecticide resistance loci in malaria mosquitoes

bioRxiv, 2018
Background Polymorphisms in the copy number of a genetic region can influence gene expression, coding sequence and zygosity, making them powerful actors in the evolutionary process.
E. Lucas, A. Miles, N. Harding, Chris S. Clarkson, Mara K. N. Lawniczak, D. Kwiatkowski, D. Weetman, M. Donnelly   +7 more
semanticscholar   +1 more source

Mitochondrial DNA copy number variation across human cancers

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   +1 more source

An evaluation of copy number variation detection tools for cancer using whole exome sequencing data

BMC Bioinformatics, 2017
Recently copy number variation (CNV) has gained considerable interest as a type of genomic/genetic variation that plays an important role in disease susceptibility.
Fatima Zare, Michelle Dow, Nicholas J Monteleone, Abdelrahman Hosny, S. Nabavi   +4 more
semanticscholar   +1 more source

Copy number variation in salivary amylase: A participant-based study on genetic variation. [PDF]

The Young Researcher, 2017
Amylase (AMY1) is an enzyme found in the mouth that is used to help digest carbohydrates. It has been found that the copy number of AMY1 has been positively associated with protein levels within an individual and also that individual’s population.
Phillips, E.
doaj  

Germline copy number variation and ovarian cancer survival

Frontiers in Genetics, 2012
Copy number variants (CNVs) have been implicated in many complex diseases. We examined whether inherited CNVs were associated with overall survival among women with invasive epithelial ovarian cancer.
Brooke L Fridley, Prabhakar eChalise, Ya-Yu eTsai, Zhifu eSun, Robert A. Vierkant, Melissa C. Larson, Julie M. Cunningham, Edwin S. Iversen, David eFenstermacher, Jill eBarnholtz-Sloan, Yan eAsmann, Harvey A. Risch, Joellen eSchildkraut, Catherine M. Phelan, Rebecca eSutphen, Thomas A. Sellers, Ellen L. Goode   +16 more
doaj   +1 more source

A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Genome Medicine, 2020
Background Exome sequencing (ES) is a first-tier diagnostic test for many suspected Mendelian disorders. While it is routine to detect small sequence variants, it is not a standard practice in clinical settings to detect germline copy-number variants ...
Ramakrishnan Rajagopalan, Jill R. Murrell, Minjie Luo, Laura K. Conlin   +3 more
doaj   +1 more source

A comprehensive survey of copy number variation in 18 diverse pig populations and identification of candidate copy number variable genes associated with complex traits

BMC Genomics, 2012
Background Copy number variation (CNV) is a major source of structural variants and has been commonly identified in mammalian genome. It is associated with gene expression and may present a major genetic component of phenotypic diversity.
Chen Congying, Qiao Ruimin, Wei Rongxing, Guo Yuanmei, Ai Huashui, Ma Junwu, Ren Jun, Huang Lusheng   +7 more
doaj   +1 more source

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

Nature Genetics, 2016
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human diversity and disease. Here we characterized the rates and properties of rare genic CNVs (
D. Ruderfer, T. Hamamsy, M. Lek, K. Karczewski, D. Kavanagh, K. Samocha, M. Daly, D. MacArthur, M. Fromer, S. Purcell   +9 more
semanticscholar   +1 more source