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Automatic chromosome analysis

 

作者: Claes Lundsteen,   Tommy Gerdes,   Erik Granum,   John Philip,   Kim Philip,  

 

期刊: Clinical Genetics  (WILEY Available online 1981)
卷期: Volume 19, issue 1  

页码: 26-36

 

ISSN:0009-9163

 

年代: 1981

 

DOI:10.1111/j.1399-0004.1981.tb00663.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Automatic analysis;band‐pattern descriptors;chromosome classification;density profiles;global features;human cytogenetics;karyotyping

 

数据来源: WILEY

 

摘要:

Human chromosomes, represented by band transition sequences, chromosome area, centromeric index by area and centromeric index by density, were karyotyped by computer. A reference set of chromosomes provided frequencies of occurrence of each density class and difference class of the band transition sequence as well as of each of the three global features. The karyotyping program was designed to handle all metaphases, even those from which severely bent and overlapped chromosomes were excluded. In one experiment, 21 metaphases were karyotyped on the basis of a reference set and the results were compared with earlier results of visual analysis of band transition profiles developed from band transition sequences: 0.8 % errors were made in the visual experiment and 1.4 % errors were made in the computer based experiment. In a second experiment, 179 metaphases were divided into reference and test sets and karyotyped by computer with an error rate of 3.4 %. By further analysis it was found that metaphases with many misclassified chromosomes could often be automatically distinguished from metaphases with few errors. Thus by automatic rejection of 7 % of the metaphases the error rate could be reduced to 2.6 %. The computer program for chromosome karyotyping will now be implemented in a semi‐automatic system for practical clinical chromosome analysi

 

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