Results 61 to 70 of about 1,224,700 (304)
Copy number variants in locally raised Chinese chicken genomes determined using array comparative genomic hybridization [PDF]
, 2013 BACKGROUND: Copy number variants contribute to genetic variation in birds. Analyses of copy number variants in chicken breeds had focused primarily on those from commercial varieties with nothing known about the occurrence and diversity of copy number ...
Chungang Feng +6 more
core +1 more source
Copy number variation goes clinical [PDF]
Genome Biology, 2009 A report of the First Golden Helix Symposium 'Copy Number Variation (CNV) and Genomic Alterations in Health and Disease', Athens, Greece, 28-29 November 2008.
Le Caignec, Cédric, Redon, Richard
openaire +2 more sources
Family-Based Benchmarking of Copy Number Variation Detection Software. [PDF]
PLoS ONE, 2015 The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases.
Marcel Elie Nutsua +6 more
doaj +1 more source
Human amylase gene copy number variation as a determinant of metabolic state [PDF]
, 2018 Introduction Humans have multiple genes encoding amylase that are broadly divided into salivary (AMY1) and pancreatic (AMY2) genes. They exhibit some of the greatest copy numbers of any human gene, an expansion possibly driven by increased dietary ...
Barber, T. (Thomas) +4 more
core +1 more source
Kernel-based aggregation of marker-level genetic association tests involving copy-number variation [PDF]
, 2013 Genetic association tests involving copy-number variants (CNVs) are complicated by the fact that CNVs span multiple markers at which measurements are taken. The power of an association test at a single marker is typically low, and it is desirable to pool
Breheny, Patrick, Li, Yinglei
core +3 more sources
Copy Number Variation in Tourette Syndrome [PDF]
Neuron, 2017 In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
Anne S, Bassett, Stephen W, Scherer
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background 131I‐metaiodobenzylguanidine (131I‐MIBG) radiotherapy is a key treatment for relapsed and refractory (R/R) neuroblastoma (NB). Patients with R/R disease treated in the modern era are increasingly exposed to anti‐GD2 immunotherapy, which exerts selective pressure and may modify both tumor cell state and microenvironment.
Benjamin J. Lerman +7 more
wiley +1 more source
CoNVaQ: a web tool for copy number variation-based association studies
BMC Genomics, 2018 Background Copy number variations (CNVs) are large segments of the genome that are duplicated or deleted. Structural variations in the genome have been linked to many complex diseases.
Simon Jonas Larsen +3 more
doaj +1 more source
Mosaic copy number variation in schizophrenia [PDF]
European Journal of Human Genetics, 2013 Recent reports suggest that somatic structural changes occur in the human genome, but how these genomic alterations might contribute to disease is unknown. Using samples collected as part of the International Schizophrenia Consortium (schizophrenia, n=3518; control, n=4238) recruited across multiple university research centers, we assessed single ...
Douglas M, Ruderfer +20 more
openaire +2 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background An internal tandem duplication in the gene encoding Fms‐like tyrosine kinase 3 (FLT3‐ITD) is associated with high relapse risk and poor prognosis in acute myeloid leukemia (AML) and plays a crucial role in treatment decisions. Measurable residual disease (MRD) analysis of FLT3‐ITD during and after treatment has shown prognostic ...
Sofie Johansson Alm +11 more
wiley +1 more source