scholarly journals Comprehensive high-resolution genomic profiling and cytogenetics of human chondrocyte cultures by GTG-banding, locus-specific FISH, SKY and SNP array

2018 ◽  
Vol 35 ◽  
pp. 225-241 ◽  
Author(s):  
M Wallenborn ◽  
◽  
O Petters ◽  
D Rudolf ◽  
H Hantmann ◽  
...  
2012 ◽  
Vol 9 (1) ◽  
pp. 84-90
Author(s):  
Annamaria Panico ◽  
Rosanna Maccari ◽  
Venera Cardile ◽  
Lucia Crascì ◽  
Simone Ronsisvalle ◽  
...  

Blood ◽  
2010 ◽  
Vol 115 (21) ◽  
pp. 4157-4161 ◽  
Author(s):  
Stefan Heinrichs ◽  
Cheng Li ◽  
A. Thomas Look

Comprehensive analysis of the cancer genome has become a standard approach to identifying new disease loci, and ultimately will guide therapeutic decisions. A key technology in this effort, single nucleotide polymorphism arrays, has been applied in hematologic malignancies to detect deletions, amplifications, and loss of heterozygosity (LOH) at high resolution. An inherent challenge of such studies lies in correctly distinguishing somatically acquired, cancer-specific lesions from patient-specific inherited copy number variations or segments of homozygosity. Failure to include appropriate normal DNA reference samples for each patient in retrospective or prospective studies makes it difficult to identify small somatic deletions not evident by standard cytogenetic analysis. In addition, the lack of proper controls can also lead to vastly overestimated frequencies of LOH without accompanying loss of DNA copies, so-called copy-neutral LOH. Here we use examples from patients with myeloid malignancies to demonstrate the superiority of matched tumor and normal DNA samples (paired studies) over multiple unpaired samples with respect to reducing false discovery rates in high-resolution single nucleotide polymorphism array analysis. Comparisons between matched tumor and normal samples will continue to be critical as the field moves from high resolution array analysis to deep sequencing to detect abnormalities in the cancer genome.


ChemInform ◽  
2008 ◽  
Vol 39 (11) ◽  
Author(s):  
Rosaria Ottana ◽  
Rosanna Maccari ◽  
Rosella Ciurleo ◽  
Maria Gabriella Vigorita ◽  
Anna Maria Panico ◽  
...  

In Vitro ◽  
1982 ◽  
Vol 18 (3) ◽  
pp. 254-260 ◽  
Author(s):  
Edith R. Schwartz ◽  
Geetha Sugumaran

Plants ◽  
2020 ◽  
Vol 9 (6) ◽  
pp. 698
Author(s):  
Na Wang ◽  
Yanzhou Xie ◽  
Yingzhuang Li ◽  
Shengnan Wu ◽  
Shuxian Li ◽  
...  

Early leaf senescence negatively impacts the grain yield in wheat (Triticum aestivum L.). Induced mutants provide an important resource for mapping and cloning of genes for early leaf senescence. In our previous study, Els2, a single incomplete dominance gene, that caused early leaf senescence phenotype in the wheat mutant LF2099, had been mapped on the long arm of chromosome 2B. The objective of this study was to develop molecular markers tightly linked to the Els2 gene and construct a high-resolution map surrounding the Els2 gene. Three tightly linked single-nucleotide polymorphism (SNP) markers were obtained from the Illumina Wheat 90K iSelect SNP genotyping array and converted to Kompetitive allele-specific polymerase chain reaction (KASP) markers. To saturate the Els2 region, the Axiom® Wheat 660K SNP array was used to screen bulked extreme phenotype DNA pools, and 9 KASP markers were developed. For fine mapping of the Els2 gene, these KASP markers and previously identified polymorphic markers were analyzed in a large F2 population of the LF2099 × Chinese Spring cross. The Els2 gene was located in a 0.24-cM genetic region flanked by the KASP markers AX-111643885 and AX-111128667, which corresponded to a physical interval of 1.61 Mb in the Chinese Spring chromosome 2BL containing 27 predicted genes with high confidence. The study laid a foundation for a map-based clone of the Els2 gene controlling the mutation phenotype and revealing the molecular regulatory mechanism of wheat leaf senescence.


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