An automated system for chromosome analysis. Volume 1: Goals, system design, and performance (original) (raw)
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Chromosome analysis guidelines preliminary report
Cancer Genetics and Cytogenetics, 1991
PREFACE: These guidelines helve been deveh)ped t)5" the Associ(ltim~ ot ('4'togenc.th: Techn(do!gists (ACTI for chronlosome analysis. In formulating its re(:ommendcltions, the task for(:(; reviewed ,guidelines established by s(~veml states and regional genetics oroul)s. Druft guidelines pr(!f)(zred by the tusk force were reviewed by (i p(mel ot expert eonstdtants, all of whom (rre laboratory directors and well known in their respective ]]elds o.t expertise. "/'he intention of the task force was to reflect procedures that era'. believed to be £ener(dly (u:cepted by (:ytogenetic laborat(.'ies as basi(: criteria j:or effective ehromosonle an(ds'sis fred thut ore consistent with existing (:yto~enelh: quality assur(ln(:e guidelines. It is import(rot to stress |hut the primary t)tzrpose o) rthe tusk torte at this time is to establish guidelines !or (:t~ronmsome analysis. While the present ,,-,uidelines oddress issues other th(m (:l~rornosome (molysis. they do so im:iclentcdty (m(t (mh in ~4eDer(ll teruls. A U/t)l'e (:Otll|)re]lellsive dis(:ussior~ of other te(:hni(:M aspects of cytog~meti(:s (:(m be lound in the forth(:(m)in,-second edition of the ACT CytoR, enetics l,aboratory Manual [I ].
Chromosome analysis guidelines – preliminary report
Cytogenetic and Genome Research, 1990
PREFACE: These guidelines helve been deveh)ped t)5" the Associ(ltim~ ot ('4'togenc.th: Techn(do!gists (ACTI for chronlosome analysis. In formulating its re(:ommendcltions, the task for(:(; reviewed ,guidelines established by s(~veml states and regional genetics oroul)s. Druft guidelines pr(!f)(zred by the tusk force were reviewed by (i p(mel ot expert eonstdtants, all of whom (rre laboratory directors and well known in their respective ]]elds o.t expertise. "/'he intention of the task force was to reflect procedures that era'. believed to be £ener(dly (u:cepted by (:ytogenetic laborat(.'ies as basi(: criteria j:or effective ehromosonle an(ds'sis fred thut ore consistent with existing (:yto~enelh: quality assur(ln(:e guidelines. It is import(rot to stress |hut the primary t)tzrpose o) rthe tusk torte at this time is to establish guidelines !or (:t~ronmsome analysis. While the present ,,-,uidelines oddress issues other th(m (:l~rornosome (molysis. they do so im:iclentcdty (m(t (mh in ~4eDer(ll teruls. A U/t)l'e (:Otll|)re]lellsive dis(:ussior~ of other te(:hni(:M aspects of cytog~meti(:s (:(m be lound in the forth(:(m)in,-second edition of the ACT CytoR, enetics l,aboratory Manual [I ].
Clinical performance of a system for semiautomated chromosome analysis
American journal of human genetics, 1987
Until recently equipment for automated chromosome analysis has not been used for routine purposes in clinical cytogenetic laboratories. During a 3 1/2-year period the chromosome laboratory of Rigshospitalet has tested the Magiscan chromosome system under routine conditions and performed the first evaluation of its clinical performance. The system consists of an image processor with a light pen for manual interaction connected to a hard-copy printer and a microscope with a TV camera and a motorized scanning stage for eight slides. Automated metaphase finding takes place without operator assistance. An operator is involved in the analysis after the metaphases are located. Using two of these complete systems, we have performed a total of 4,691 chromosome analyses comprising a count of 10 metaphases, of which three were "eyeball" karyotyped and one was "machine" karyotyped. Presently, two-thirds of our prenatal analyses (amniotic-cell cultures) are carried out with t...
International Journal of Advanced Research in Computer Science, 2018
Computer Aided Diagnosis (CAD) is an important pattern recognition application in the field of medical sciences. Such systems assist (not replaces) doctors in the interpretation of medical image. Computerized system for automated chromosome analysis is amongst popular CAD systems which have attracted the attention of numerous researchers, making it a thrust area for further investigations. In last 25 years, extensiveinvestigations have been contributed to designAutomated Karyotyping Systems (AKS). This paper presents a comprehensive survey of the developments and current trends in the field of AKS. The survey details the overall advancements in AKS since its origin and presents an effective review of pre-processing and image enhancement techniques, segmentation methods, feature extraction algorithms and the classifiers used in AKS. Few unaddressed issues and challenges that have comparatively received meagre attention are discussed highlighting the future prospects of AKS and providing pointers to the further research.
Automatic classification of chromosomes as part of a routine system for clinical analysis
Cytometry, 1986
A procedure for automatic classification of G‐banded human chromosomes has been implemented on a semiautomated system for routine clinical analysis. Chromosomes represented by their density profiles are described by so‐called weighted density distribution (WDDs) by application of a number of weighting functions and classified by a parametric discriminant analysis. During 16 mo of routine use of the system, 2,794 metaphases (127,925 chromosomes) from amniotic fluid have been karyotyped by the system with an error rate of 8–9%. This corresponds to 4–5 errors per metaphase. These errors can immediately be corrected by the operator on a displayed karyogram with a light pen.
Acta Medica Philippina, 2009
Philippines Manila in 1999, houses the Cytogenetics Laboratory that services many hospitals throughout the country through processing of peripheral blood, cord blood, bone marrow and skin/tissue samples for cytogenetic analysis. Bone marrow, cord blood and skin/tissues account for 14.9%, 8.5% and 1.8% of samples analyzed, respectively, and the remainder are peripheral blood (74.8%). This paper presents the results of a retrospective review of the chromosomal analysis done on peripheral blood samples from 1991 to 2007. Of the 10655 samples submitted, 8391 were samples from patients and 2264 were research samples on cytogenetic effects of environmental toxins, (i.e. pesticides, etc.) on high risk populations. Of the 8391 patient samples analyzed, 73.0% were from hospitals in Luzon, 4.0% from Visayas, and 0.9% from Mindanao. Samples from private health practitioners' clinics from different parts of the country accounted for 11.7% of the samples received. There was no information given on source of sample in 10.3%. The top 3 reasons for referral for cytogenetic studies are confirmation of a chromosomal diagnosis, cytogenetic effects of environmental toxins (i.e. pesticides), and recurrent miscarriages/ poor obstetric history. Numerical chromosome abnormalities (86.6%) were more common than structural abnormalities (13.39%). Among the numerical abnormalities, 90.2% were autosomal, and Trisomy 21 is the most common type of aneuploidy seen. For sex chromosome abnormalities, the classic form of Turner was most prevalent. Deletions, additions, and translocations were the most predominantly ascertained structural abnormalities of the chromosomes in this review. This paper aims to review the abnormal results of the chromosomal analysis done on peripheral blood samples of patients processed by the Cytogenetics Laboratory of the Institute of Human Genetics from 1991 to 2007. Data of research samples will not be included in this paper.
RENEB intercomparisons applying the conventional Dicentric Chromosome Assay (DCA)
International Journal of Radiation Biology, 2016
Purpose: Two quality controlled inter-laboratory exercises were organized within the EU project 'Realizing the European Network of Biodosimetry (RENEB)' to further optimize the dicentric chromosome assay (DCA) and to identify needs for training and harmonization activities within the RENEB network. Materials and methods: The general study design included blood shipment, sample processing, analysis of chromosome aberrations and radiation dose assessment. After manual scoring of dicentric chromosomes in different cell numbers dose estimations and corresponding 95% confidence intervals were submitted by the participants. Results: The shipment of blood samples to the partners in the European Community (EU) were performed successfully. Outside the EU unacceptable delays occurred. The results of the dose estimation demonstrate a very successful classification of the blood samples in medically relevant groups. In comparison to the 1st exercise the 2nd intercomparison showed an improvement in the accuracy of dose estimations especially for the high dose point. Conclusions: In case of a large-scale radiological incident, the pooling of ressources by networks can enhance the rapid classification of individuals in medically relevant treatment groups based on the DCA. The performance of the RENEB network as a whole has clearly benefited from harmonization processes and specific training activities for the network partners.
Development of an Automated System for Chromosome Classification
Automated chromosome classification has been an important pattern recognition problem for decades. In this paper a novel method for Karyotyping (segmentation and classification) of chromosomes is used. Segmentation is carried out using watershed algorithm and area of each of the chromosomes is calculated to classify them in different classes. Though multiplex fluorescent in situ hybridization (MFISH) is recently very commonly used technique for classification, it is very costly. The method proposed in this paper is applicable to gray and color images as well. The algorithm was tested on samples from genetic labs and has shown acceptable classification results.
An automatic system for chromosomal analysis applied to prenatal diagnosis
Human Genetics, 1979
Computer-assisted metaphase analysis for prenatal diagnosis can be economically performed by a preexisting hardware-software system. The program can be run by technician-level (i.e., nonspecialist) personnel who can opt for the automatic operational mode for good quality metaphases or for the semimanual mode for problem metaphases (numerous superpositions, artifacts, etc.). The karyotype can be obtained in conversational mode. Hardcopy output is available for all modes.