نتایج جستجو برای: copy number typing

تعداد نتایج: 1213843  

2014
Louise V. Wain Linda Odenthal-Hesse Razan Abujaber Ian Sayers Caroline Beardsmore Erol A. Gaillard Sally Chappell Cristian M. Dogaru Tricia McKeever Tamar Guetta-Baranes Noor Kalsheker Claudia E. Kuehni Ian P. Hall Martin D. Tobin Edward J. Hollox

Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component. Genome-wide association studies of SNPs have revealed novel genetic associations with both diseases but only account for a small proportion of the h...

2012
Rachel Black Sue Lester Emma Dunstan Farhad Shahram Abdolhadi Nadji Noushin Bayat Kayvan Saeedfar Naghmeh Ziaei Catherine Hill Maureen Rischmueller Fereydoun Davatchi

Behçet's disease (BD) is an immune-mediated systemic vasculitis associated with HLAB51. Other gene associations are likely and may provide further insight into the pathogenesis of this disease. Fc-gamma receptors play an important role in regulating immune function. Copy number variation (CNV) of the Fc-gamma receptor 3B (FCGR3B) gene is associated with other inflammatory conditions and may als...

Journal: :Journal of computational biology : a journal of computational molecular cell biology 2012
Yinglei Lai

The recent genome-wide allele-specific copy number variation data enable us to explore two types of genomic information including chromosomal genotype variations as well as DNA copy number variations. For a cancer study, it is common to collect data for paired normal and tumor samples. Then, two types of paired data can be obtained to study a disease subject. However, there is a lack of methods...

Journal: :International journal of computational biology and drug design 2008
Nathan E. Wineinger Richard E. Kennedy Stephen W. Erickson Mary K. Wojczynski Carl E. Bruder Hemant K. Tiwari

Approaches to assess copy number variation have advanced rapidly and are being incorporated into genetic studies. While the technology exists for CNV genotyping, a further understanding and discussion of how to use the CNV data for association analyses is warranted. We present the options available for processing and analysing CNV data. We break these steps down into choice of genotyping platfo...

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