Abstract 414: Broad range chromosomal abnormality detection through Bionano genome mapping

Author(s):  
Alex R. Hastie
2006 ◽  
Vol 04 (06) ◽  
pp. 1217-1226 ◽  
Author(s):  
TIMUR S. SHAKUOV

The connection between certain human diseases and abnormal changes in chromosomes was discovered nearly 50 years ago. However, the detection of these abnormalities turned out to be a difficult task because both microscopic technologies and biochemical diagnostic techniques have their limitations. In the beginning of the century, a method for multiple comparative genome hybridization (array CGH) was introduced and is now been widely used in clinical practice for biochemical diagnostics. The application of array CGH greatly reduces the statistical errors, but not the noise in the results. As such, the time and material expenses necessary for reliable localization of abnormal parts of chromosomes by the means of biochemical techniques, is not significantly reduced. Algorithms for localization of contrast parts in noisy sequences can improve the situation. We implemented and tested two algorithms for this purpose. The first is the "edge detector" algorithm introduced by J. Canny. The second one is the DotHelix algorithm developed by A. M. Leontovich, L. I. Brodsky, and A. E. Gorbalenya. In this paper we compare the two implementations against biochemical method in processing data produced by array CGH.


Author(s):  
Oleksii Pysarchuk ◽  
Yurii Mironov

The article considers the problem of automatic chromosome abnormalities recognition, using images of chromosomes as an input. This paper’s scope includes overview of application domain and analysis of existing solutions. A high-level algorithm for chromosome abnormalities recognition automation is proposed, and a proof-of-concept application is built on top of the algorithm.


Author(s):  
B.A. Hamkalo ◽  
S. Narayanswami ◽  
A.P. Kausch

The availability of nonradioactive methods to label nucleic acids an the resultant rapid and greater sensitivity of detection has catapulted the technique of in situ hybridization to become the method of choice to locate of specific DNA and RNA sequences on chromosomes and in whole cells in cytological preparations in many areas of biology. It is being applied to problems of fundamental interest to basic cell and molecular biologists such as the organization of the interphase nucleus in the context of putative functional domains; it is making major contributions to genome mapping efforts; and it is being applied to the analysis of clinical specimens. Although fluorescence detection of nucleic acid hybrids is routinely used, certain questions require greater resolution. For example, very closely linked sequences may not be separable using fluorescence; the precise location of sequences with respect to chromosome structures may be below the resolution of light microscopy(LM); and the relative positions of sequences on very small chromosomes may not be feasible.


2015 ◽  
Vol 10 (4) ◽  
pp. 431 ◽  
Author(s):  
Chaimae Saadi ◽  
Habiba Chaoui ◽  
Hassan Erguig

2019 ◽  
Author(s):  
S. Bhavani ◽  
LINCY JEMINA S ◽  
PRABHA B ◽  
Shanthini Smilin

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