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Methods Inf Med 1964; 3(02): 67-72
DOI: 10.1055/s-0038-1636240
Original Article
Schattauer GmbH

Applications of Digital Computers in Human Genetics

ANWENDUNGSGEBIETE VON DIGITALRECHNERN IN DER HUMANGENETIK
C. S. Chung
1   From the Human Genetics Branch, National Institute of Dental Research, National Institutes of Health, Public Health Service, U. S. Department of Health, Education, and Welfare, Bethesda 14, Maryland.
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Publikationsverlauf

Received: 25. Oktober 1963

Publikationsdatum:
17. Februar 2018 (online)

    Lizenzen und Reprints

The use of digital computers in genetic analysis of human family and population data is assuming increased importance in recent years. It is now possible to approach problems which would have proved too tedious to be feasible in the past.

The application of digital computers in this field may be roughly classified into two aspects: one in which the storage and retrieval of inforrmation constitutes the major operation, and another in which computation for the solution of complex mathematical and statistical problems plays the more important role. A review has been presented on the uses of computers in these areas.

Included in the first category are rcord linkage and the calculation of inbreeding coefficients for small isolate populations. However, applications in the second category have been more diverse than in the first. They encompass genetic linkage, segregation analysis, genetic selection and equilibrium, gene frequency analysis, and multivariate procedures. The advantages of these techniques are discussed, and some findings of genetic interest are presented. Undoubtedly, the future use of digital computers in human genetic analysis is not limited to these phases, and further applications are expected.

Die Verwendung von Digitalrechnern zur genetischen Analyse menschlicher Familien- und Populationsdaten hat in den letzten Jahren erhöhte Bedeutung gewonnen. Es ist jetzt möglich, Probleme zu bearbeiten, deren Lösung bisher zu schwierig gewesen wäre.

Der Einsatz digitaler Rechenmaschinen auf diesem Gebiet erfolgt — kurz gesagt — unter zwei verschiedenen Gesichtspunkten: einem, bei dem das Speichern und Wiederauffinden von Informationen im Vordergrund steht, und einem anderen, bei dem die rechnerische Lösung komplexer mathematischer und statistischer Probleme die Hauptrolle spielt, über beide Anwendungsbereiche wird berichtet.

Zur ersten Kategorie zählen das Zusammenführen der jeweils zueinandergehörenden Daten (“record linkage”) und die Berechnung von Inzuchtkoeffizienten für kleinere geschlossene Populationen. Vielseitiger noch sind die Verwendungsmöglichkeiten der Computer innerhalb der zweiten Kategorie. Sie umfassen genetische Kopplung, Segregationsanalyse, genetische Selektion und genetisches Gleichgewicht, Genhäufigkeitsanalysen und mehrdimensionale Verfahren. Die Vorteile der maschinellen Methoden werden erörtert und einige genetisch interessante Ergebnisse mitgeteilt. Der künftige Einsatz von Digitalrechnern in der menschlichen Erbanalyse wird zweifellos nicht auf die angeführten Bereiche beschränkt bleiben; die Erschließung weiterer Anwendungsgebiete ist zu erwarten.

 

  • Bibliography

  • 1 Barker J. S. F.. Simulation ol genetic systems by automatic digital computers. III. Selection between alleles at an autosomal locus. Aust. J. Biol. Sei 11: 603-612 1958;
    PubMedGoogle Scholar
  • 2 Bartlett M. S.. The goodness of fit of a single hypothetical function in the case of several groups. Ann. Eugen 16: 199-214 1951;
    CrossrefPubMedGoogle Scholar
  • 3 Barrai I., Morton N. E., Juetten P., Pratt V.. Extension of segregation analysis with simultaneous estimates of prevalence and fertility. in preparation.
    PubMedGoogle Scholar
  • 4 Bennett J. H., Brandt J.. Some more exact tests of significance for O-A maternal-foetal incompatibility. Ann. Eugen 18: 302-310 1954;
    PubMedGoogle Scholar
  • 5 Brown K. S., Chung C. S., Cassady G.. Discriminant analysis in Alport’s syndrome; Abstract. Amer. Soc. Human Genet. 23-24 1963
    PubMedGoogle Scholar
  • 6 Cheeseman E. A., Kilpatrick S. J., Stevenson A. C.. The sex ratio of. mutation rates of sax-United recessive genes in man with particular reference to Duchenne type muscular dystrophy. Ann. Hum. Genet 22: 235-243 1958;
    PubMedGoogle Scholar
  • 7 Chung C. S.. Genetic analysis of human familty and population data with use of digital computers. Proc. 3rd IBM Medical Symposium. 1961
    PubMedGoogle Scholar
  • 8 Chung C. S.. Relative genetic loads due to lethal and detrimental genes in irradiated populations of Drosophila melanogaster. Genet 47: 1489-1504 1962;
    PubMedGoogle Scholar
  • 9 Chung C. S., Matsunaga E., Morton N. E.. The ABO polymorphism in Japan. Jap. J. Hum. Genet 5: 124134 1960; ’.
    PubMedGoogle Scholar
  • 10 Chung C. S., Matsunaga E., Morton N. E.. The MN polymorphism in Japan. Jap. J. Hum. Genet, fi: 1-11 1961;
    PubMedGoogle Scholar
  • 11 Chung C. S., Morton N. E.. Discrimination of genetic entities in muscular dystrophy. Amer. J. Hum. Genet 11: 339-359 1059;
    PubMedGoogle Scholar
  • 12 Chung C. S., Morton N. E.. Selection at the ABO locus. Amer. J. Hum. Genet 13: 0-27 1961;
    PubMedGoogle Scholar
  • 13 Chung C. S., Morton N. E.. Genetics of interracial crosses in Hawaii. 1963 Proc. 2nd Intern. Cong. Hum. Genet. Vol. I 134-138.
    PubMedGoogle Scholar
  • 14 Chung C. S., Morton N. E., Peters H. A.. Serum enzymes and genetic carriers in muscular dystrophy. Amer. J. Hum. Genet 12: 52-66 1960;
    PubMedGoogle Scholar
  • 15 Chung C. S., Robison O. W., Morton N. E.. A note on deaf mutism. Ann. Hum. Genet 23: 357-366 1959;
    CrossrefPubMedGoogle Scholar
  • 16 Chung C. S., Witkop C. J., Henry J. L.. A genetic study of dental caries with special reference to P. T. C. taste ability. in press; Amer. J. Hum. Genet. 1964
    Google Scholar
  • 17 Finney D. J.. The truncated binomial distribution. Ami. Eugen 14: 319-328 1949;
    PubMedGoogle Scholar
  • 18 Fisher R. A.. The statistical utilization of multiple measurements. Ann. Eugen 8: 376-386 1938;
    CrossrefPubMedGoogle Scholar
  • 19 Fisher R. A.. The fitting of gene frequencies to data on Rhesus reactions. Ann. Eugen 13: 150-155 1947;
    PubMedGoogle Scholar
  • 20 Fräser A. S.. Simulation of genetic systems by automatic digital computers. I. Introduction. Aust. J. Biol. Sei 10: 484-491 1957;
    PubMedGoogle Scholar
  • 21 Fräser A. S.. Simulation of genetic systems by automatic digital computers. II. Effects of linkage on rates of advance under selection. Aust. J. Biol. Sei 10: 492-499 1957;
    PubMedGoogle Scholar
  • 22 Haldane J. B. S.. The estimation of the frequencies of recessive conditions in man. Ann. Eugen 8: 255-202 1938;
    CrossrefPubMedGoogle Scholar
  • 23 Haldane J. B. S.. The mutation rate of the gene for hemophilia and its segregation ratios in males and females. Ann. Eugen 13: 262-271 1947;
    PubMedGoogle Scholar
  • 24 Haldane J. B. S.. The formal genetics of man. Proc. R. Soc. B 135: 147-170 1948;
    CrossrefPubMedGoogle Scholar
  • 25 Haldane J. B. S.. A test for homogeneity of records of familial abnormalities. Ann. Eugen 14: 339-341 1949;
    PubMedGoogle Scholar
  • 26 Haldane J. B. S.. Mutation in the sex-linked recessive type of muscular dystrophy — possible sex-difference. Ann. Hum. Genet 20: 344-347 1956;
    CrossrefPubMedGoogle Scholar
  • 27 Haldane J. B. S., Smith C. A. B.. A new estimate of the linkage between the genes for colour-blindness and haemophilia in man. Ann. Eugen 14: 10-31 1947;
    CrossrefPubMedGoogle Scholar
  • 28 Hanna B. L.. The biological relationships among Indian groups of the Southwest. Amer. J. Phys. Anthr 20: 499508 1962;
    PubMedGoogle Scholar
  • 29 Hoen K., Grandage A. H. E.. Note: Calculation of inbreeding in family selection studies on the IBM 650 data processing machine. Biometrics 16: 292-296 1960;
    CrossrefPubMedGoogle Scholar
  • 30 Kennedy J. M.. The use of a digital computer for record linkage. In “The use of vital and health statistics for genetic and radiation studies”. UN/WHO; 1962
    Google Scholar
  • 31 Kosower N., Christiansen R., Morton N. E.. Sporadic cases of hemophilia aid the question of a possible sex difference in mutation rates. Amer. J. Hum. Genet 14: 159-169 1962;
    PubMedGoogle Scholar
  • 32 Kudo A.. A method for calculating the inbreeding coefficient. Amer. J. Hum. Genet 14: 426-432 1962;
    PubMedGoogle Scholar
  • 33 Lawler S. D.. Family studies showing linkage between elliptocytosis and the Rhesus blood group system. Caryo-logia Supp 0: 1199-1201 1954;
    PubMedGoogle Scholar
  • 34 Ledley R. S.. Dieilal electronic computers in biomedical science. Science 130: 1225-1233 1959;
    CrossrefPubMedGoogle Scholar
  • 35 Levene H., Rosenfield R. E.. ABO incompatibility. In “Progress in medical genetics.”. Vol. I (ed.) A. G. Steinberg; New York: Grune and Stratton 1961
    Google Scholar
  • 36 Lewontin R. C., Dunn L. C.. The evolutionary dynamics of a polymorphism in the mouse. Genetics 45: 705-722 1960;
    PubMedGoogle Scholar
  • 37 Mahalanobis P. C.. On tests and measures of group divergence. I. Theoretical formulae. J. Asiatic Soc. Bengal 26: 541-588 1930;
    PubMedGoogle Scholar
  • 38 Mahalanobis P. C.. On the generalized distance in statistics. Proc. Nat. Inst. Sei. (India) 2: 49-55 1936;
    PubMedGoogle Scholar
  • 39 Morton N. E.. Sequential tests for the detection of linkage. Amer. J. Hum. Genet 7: 277-318 1955;
    PubMedGoogle Scholar
  • 40 Morton N. E.. The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Amer. J. Hum. Genet 8: 80-96 1956;
    PubMedGoogle Scholar
  • 41 Morton N. E.. Further scoring types in sequential link age tests with a critical review of autosomal and partial sex-linkage in man. Amer. J. Hum. Genet 9: 55-75 1957;
    PubMedGoogle Scholar
  • 42 Morton N. E.. Segregation analysis in human genetics. Science 127: 79-30 1958;
    CrossrefPubMedGoogle Scholar
  • 43 Morton N. E.. Genetic tests under incomplete ascertainment. Amer. J. Hum. Genet 11: 1-16 1059;
    PubMedGoogle Scholar
  • 44 Morton N. E.. Genetics of interracial crosses in Hawaii. Eugen. Quart 9: 23-24 1962;
    PubMedGoogle Scholar
  • 45 Morton N. E., Chung C. S.. Are the MN blood groups maintained by selection?. Amer. J. Hum. Genet 11: 237251 1959;
    PubMedGoogle Scholar
  • 46 Morton N. E., Chung C. S.. Formal genetics of muscular dystrophy. Amer. J. Hum. Genet 11: 360-379 1959;
    PubMedGoogle Scholar
  • 47 Morton N. E., Mackinney A. A., Kosower N., Schilling R. F., Gray M. P.. Genetics of spherocytosis. Amer. J. Hum. Genet 14: 170-184 1962;
    PubMedGoogle Scholar
  • 48 MURPHY E. A., Schulze J.. A urogram for estimation of genetic linkage in man. Proc. 3rd IBM Medical Symposium 1961
    PubMedGoogle Scholar
  • 49 Newcombe H. B., Rhynas P. O. W.. Family linkage of population records. In “The use of vital and health statistics for genetic and radiation studies”. UN/WHO; 1962
    Google Scholar
  • 50 Novitski E.. Computer programming. In “Methodology in human genetics.”. (ed.) Burdette W. J.. San Francisco: Holden-Day; 1962
    Google Scholar
  • 51 Rao C. R.. Advanced statistical methods in biometric research. New York: John Wiley and Sons; 1952
    Google Scholar
  • 52 Renwick J. H.. Elucidation of gene order.. In “Recent advances in human genetics”. (ed) Penrose L. S.. Boston: Little, Brown, & Co.; 1961
    Google Scholar
  • 53 Schull W. J., Kudo A.. Certain multivariate problems arising in human genetics. 3rd IBM Medical Symposium 1961
    PubMedGoogle Scholar
  • 54 Schull W. J., Neel J. V.. Sex-linkage, inbreeding, and growth in childhood. Amer. J. Hum. Genot 15: 108-114 1963;
    PubMedGoogle Scholar
  • 55 Simpson H. R.. The estimation of linkage on an electronic computer. Ann. Hum. Genet 22: 356-361 1953;
    PubMedGoogle Scholar
  • 56 Smith C. A. B.. The detection of linkage in human genetics. J. Roy. Stat. Soc. B 15: 153-192 1953;
    PubMedGoogle Scholar
  • 57 Smith C. A. B., Kilpatrick S. J.. Estimates of the sex ratio of mutation rates in sex-linked conditions by the method of maximum likelihood. Ann. Hum. Genet 22: 244-249 1958;
    CrossrefPubMedGoogle Scholar
  • 58 Stevens W. L.. Estimation of blood-group gene frequencies. Ann. Eugen 8: 382-375 1938;
    PubMedGoogle Scholar
  • 59 Stevenson A. C., Cheeseman E. A.. Hereditary deafmutism, with particular reference to Northern Ireland. Ann. Hum. Genet 20: 177-231 1956;
    CrossrefPubMedGoogle Scholar
  • 60 Wang H. L., Morton N. E., Waisman H. A.. Increased reliability for the determination of the carrier state in phenylketonuria. Amer. J. Hum. Genet 13: 255261 1961;
    PubMedGoogle Scholar
  • 61 Wiener A. S.. “Blood groups and transfusions”. Spring-field: Charles C. Thomas 1943
    Google Scholar
  • 62 Witkop C. J., Barros L.. Oralandgenetic studies of Chileans 1960. I. Oral anomalies. Amer. J. Phys. Anthr 21: 15-24 1963;
    PubMedGoogle Scholar
  • 63 Wright S.. Coefficients of inbreeding and relationships. Amer. Nat 50: 330-338 1922;
    PubMedGoogle Scholar