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Artykuły w czasopismach na temat „Human genetics”

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Autor: Grafiati
Data publikacji: 4 czerwca 2021
Data aktualizacji: 29 lipca 2024

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1

Comai, L. "Human genetics: Human genetics discovering ourselves". Heredity 99, nr 5 (19.09.2007): 481–82. http://dx.doi.org/10.1038/sj.hdy.6801060.

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2

Vázquez, José. "Human Genetics". American Biology Teacher 68, nr 2 (1.02.2006): 118–19. http://dx.doi.org/10.2307/4451943.

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3

Haas, John M. "Human Genetics". Ethics & Medics 21, nr 2 (1996): 1–3. http://dx.doi.org/10.5840/em19962123.

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4

Connors, Bernadette J. "Human Genetics". American Biology Teacher 77, nr 5 (1.05.2015): 393–94. http://dx.doi.org/10.1525/abt.2015.77.5.12c.

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5

Atramentova, L. A. "Bayesian statistics in human genetics". Faktori eksperimental'noi evolucii organizmiv 26 (1.09.2020): 316–19. http://dx.doi.org/10.7124/feeo.v26.1286.

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Using of the Bayes’ method in genetic counseling allows clarifying of the probability of a disease in the offspring, which in some cases can save probands from additional laboratory diagnostic tests due to the extremely low risk which can be calculated. The article is devoted to the usage of the Bayes’ method in human genetics. The concepts of a priori, conditional, total and posterior probabilities are introduced. As an example, a pedigree with a monogenic recessive X-linked trait is considered. An algorithm for calculating of the probability that a patient is a carrier of a pathological gene is presented. The prediction of results made with help of using the classical method of calculations and the Bayesian method are compared. An example for calculation of the gene mutation rate based on epidemiological and genetic data is given. The discussed topic can be taken into account for presenting of courses in human genetics and medical genetics at classical and medical universities, and the given problem can serve as an example for drawing up of tasks for students with pedigrees of various configurations and other attributes. Keywords: Bayesian method, a priori probability, posterior probability, teaching of genetics, genetic counseling.
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6

Motulsky, Arno G. "Societal problems in human and medical genetics". Genome 31, nr 2 (15.01.1989): 870–75. http://dx.doi.org/10.1139/g89-153.

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The applications of human and medical genetics raise many societal and ethical problems. This paper deals with a variety of such issues posed by current and future developments in genetic counseling, genetic screening, prenatal and predictive diagnosis, and gene therapy. The promise and problems of behavioral genetics are discussed. Problems of privacy, decision making, societal pressures, stigmatization, and informed consent to genetic study are raised. Use of genetic data by insurance companies or other public groups is discussed. The rapid unfolding of genetic information affecting human health and disease is producing difficult dilemmas. New problems are likely to surface, but human ingenuity and rationality is likely to find just and compassionate solutions in most settings.Key words: genetics and society; genetic diseases; counseling, genetic screening.
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7

Passarge, Eberhard. "Origins of human genetics. A personal perspective". European Journal of Human Genetics 29, nr 7 (4.02.2021): 1038–44. http://dx.doi.org/10.1038/s41431-020-00785-7.

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AbstractGenetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses. This personal account suggests that the origins of human genetics can best be traced to the years 1949 to 1959. Several genetic scientific advances in genetics in 1949 yielded results directly relating to humans for the first time, except for a few earlier observations. In 1949 the first textbook of human genetics was published, the American Journal of Human Genetics was founded, and in the previous year the American Society of Human Genetics. In 1940 in Britain a textbook entitled Introduction to Medical Genetics served as a foundation for introducing genetic aspects into medicine. The introduction of new methods for analyzing chromosomes and new biochemical assays using cultured cells in 1959 and subsequent years revealed that many human diseases, including cancer, have genetic causes. It became possible to arrive at a precise cause-related genetic diagnosis. As a result the risk of occurrence or re-occurrence of a disease within a family could be assessed correctly. Genetic counseling as a new concept became a basis for improved patient care. Taken together the advances in medically orientated genetic research and patient care since 1949 have resulted in human genetics being both, a basic medical and a basic biological science. Prior to 1949 genetics was not generally viewed in a medical context. Although monogenic human diseases were recognized in 1902, their occurrence and distribution were considered mainly at the population level.
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8

King, M. C. "HUMAN GENETICS: Mapping Human History". Science 298, nr 5602 (20.12.2002): 2342–43. http://dx.doi.org/10.1126/science.1080373.

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9

Lupski, James R. "A Human in Human Genetics". Cell 177, nr 1 (marzec 2019): 9–15. http://dx.doi.org/10.1016/j.cell.2019.02.034.

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10

Lorey, Fred. "Human Genetics Data Applied to Genetic Screening Programs". Practicing Anthropology 20, nr 2 (1.04.1998): 30–33. http://dx.doi.org/10.17730/praa.20.2.n84728r821185380.

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The uses of human genetic data in genetic screening are multifaceted and dynamic, creating an ongoing stream of useful prevalence data, ethnicity data, and natural history information. Since the primary facility for generation of these data is a large public health genetic screening program, however, the results must be continually analyzed and evaluated in the context of testing parameters. For example, presumptive positive rates (initial screening test positives, only a portion of which will become diagnosed cases), false positive rates, detection rates, and analytical values must be constantly checked to ensure the screening program is running smoothly and effectively. Any departures from the expected must be investigated so that the cause(s) can be determined and corrected. On a longitudinal basis, outcomes must be evaluated to ensure that the intended purpose of preventing mortality and reducing morbidity through intervention is achieved.
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11

Fauser, B. C. J. M., i A. J. W. Hsueh. "Genetics: Genetic basis of human reproductive endocrine disorders". Human Reproduction 10, nr 4 (kwiecień 1995): 826–46. http://dx.doi.org/10.1093/oxfordjournals.humrep.a136047.

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12

Schofield, Paul N., Robert Hoehndorf i Georgios V. Gkoutos. "Mouse genetic and phenotypic resources for human genetics". Human Mutation 33, nr 5 (13.04.2012): 826–36. http://dx.doi.org/10.1002/humu.22077.

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13

Bochkov, Nikolai P. "Human ecological genetics". Ecological genetics 1, nr 1 (15.01.2003): 16–21. http://dx.doi.org/10.17816/ecogen1016-21.

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A resumptive review of the three types of effects of new environmental factors on human heredity is presented: 1) alteration of hereditary elements (induced mutagenesis); 2) pathological manifestations of gene expression on the specific environmental factors (ecogenetic diseases, pharmacogenetics, toxicogenomics, nutrigenomics); 3) alteration of the population gene pool as a result of disturbance of genetic balance between mutation process and selection. The following thesis is proving: in spite of severity and seriousness of current problems of ecological human genetics, the decision can be made on the basis of fundamental sciences advances and technological progress.
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14

Beyleveld, Deryck, i Roger Brownsword. "Human Dignity, Human Rights, and Human Genetics". Modern Law Review 61, nr 5 (wrzesień 1998): 661–80. http://dx.doi.org/10.1111/1468-2230.00172.

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15

Li, Marilyn, i Donna Albertson. "Human cancer genetics". Journal of Zhejiang University SCIENCE B 7, nr 2 (luty 2006): 164. http://dx.doi.org/10.1631/jzus.2006.b0164.

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16

Bowman, John. "Human Evolutionary Genetics". Journal of Biological Education 49, nr 1 (31.03.2014): 108–9. http://dx.doi.org/10.1080/00219266.2014.882383.

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17

Whittaker, J. "Human Molecular Genetics". Journal of Medical Genetics 33, nr 8 (1.08.1996): 720. http://dx.doi.org/10.1136/jmg.33.8.720-a.

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18

Trump, D. "Human Molecular Genetics". Journal of Medical Genetics 34, nr 2 (1.02.1997): 176. http://dx.doi.org/10.1136/jmg.34.2.176-b.

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19

Clegg, J. B. "Human Hemoglobin Genetics". Journal of Medical Genetics 24, nr 5 (1.05.1987): 318–19. http://dx.doi.org/10.1136/jmg.24.5.318-a.

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20

SLAVKIN, HAROLD C. "UNDERSTANDING HUMAN GENETICS". Journal of the American Dental Association 127, nr 2 (luty 1996): 266–67. http://dx.doi.org/10.14219/jada.archive.1996.0180.

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21

Loehlin, J. C., L. Willerman i J. M. Horn. "Human Behavior Genetics". Annual Review of Psychology 39, nr 1 (styczeń 1988): 101–33. http://dx.doi.org/10.1146/annurev.ps.39.020188.000533.

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22

Plomin, Robert, i Richard Rende. "Human Behavioral Genetics". Annual Review of Psychology 42, nr 1 (styczeń 1991): 161–90. http://dx.doi.org/10.1146/annurev.ps.42.020191.001113.

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23

Michels, Virginia V. "Human Hemoglobin Genetics". Mayo Clinic Proceedings 61, nr 10 (październik 1986): 838. http://dx.doi.org/10.1016/s0025-6196(12)64832-0.

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24

Brock, David J. H. "Basic human genetics". Trends in Genetics 10, nr 6 (czerwiec 1994): 215. http://dx.doi.org/10.1016/0168-9525(94)90260-7.

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25

Drayna, Dennis. "HUMAN TASTE GENETICS". Annual Review of Genomics and Human Genetics 6, nr 1 (wrzesień 2005): 217–35. http://dx.doi.org/10.1146/annurev.genom.6.080604.162340.

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26

Tully, Lois A., i Barbara C. Levin. "Human Mitochondrial Genetics". Biotechnology and Genetic Engineering Reviews 17, nr 1 (sierpień 2000): 147–78. http://dx.doi.org/10.1080/02648725.2000.10647991.

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27

Sutherland, G. R. "Human Molecular Genetics". BMJ 312, nr 7046 (22.06.1996): 1619. http://dx.doi.org/10.1136/bmj.312.7046.1619.

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28

Barnes, R. "Human molecular genetics". Postgraduate Medical Journal 73, nr 866 (1.12.1997): 837. http://dx.doi.org/10.1136/pgmj.73.866.837-a.

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29

Jorde, L. B. "Basic human genetics". American Journal of Medical Genetics 90, nr 2 (17.01.2000): 178. http://dx.doi.org/10.1002/(sici)1096-8628(20000117)90:2<178::aid-ajmg20>3.0.co;2-s.

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30

Constans, J. "DNA and protein polymorphism: Application to anthropology and human genetics". Anthropologischer Anzeiger 46, nr 2 (13.06.1988): 97–117. http://dx.doi.org/10.1127/anthranz/46/1988/97.

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31

Korunes, Katharine L., i Amy Goldberg. "Human genetic admixture". PLOS Genetics 17, nr 3 (11.03.2021): e1009374. http://dx.doi.org/10.1371/journal.pgen.1009374.

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Throughout human history, large-scale migrations have facilitated the formation of populations with ancestry from multiple previously separated populations. This process leads to subsequent shuffling of genetic ancestry through recombination, producing variation in ancestry between populations, among individuals in a population, and along the genome within an individual. Recent methodological and empirical developments have elucidated the genomic signatures of this admixture process, bringing previously understudied admixed populations to the forefront of population and medical genetics. Under this theme, we present a collection of recent PLOS Genetics publications that exemplify recent progress in human genetic admixture studies, and we discuss potential areas for future work.
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32

Andrés, Aida M., i Katja Nowick. "Editorial overview: Genetics of human evolution: The genetics of human origins". Current Opinion in Genetics & Development 29 (grudzień 2014): v—vii. http://dx.doi.org/10.1016/j.gde.2014.11.001.

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33

Kemper, Kathryn. "59 Insights into Complex Traits from Human Genetics". Journal of Animal Science 99, Supplement_3 (8.10.2021): 30–31. http://dx.doi.org/10.1093/jas/skab235.052.

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Abstract Genomic selection has been implemented successfully in many livestock industries for genetic improvement. However, genomic selection provides limited insight into the genetic mechanisms underlying variation in complex traits. In contrast, human genetics has a focus on understanding genetic architecture and the origins of quantitative trait variation. This presentation will discuss a number of examples from human genetics which can inform our understanding of the nature of variation in complex traits. So-called ‘monogenic’ conditions, for example, are proving to have more complex genetic architecture than naïve expectations might suggest. Massive data sets of millions of people are also enabling longstanding questions to be addressed. Traits such as height, for example, are affected by a very large but finite number of loci. We can reconcile seemingly disparate heritability estimates from different experimental designs by accounting for assortative mating. The presentation will provide a brief update on current approaches to genomic prediction in human genetics and discuss the implications of these findings for understanding and predicting complex traits in livestock.
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34

B., G., Z. Bankowski i A. M. Capron. "Genetics, Ethics and Human Values. Human Genome Mapping, Genetic Screening and Gene Therapy". Population (French Edition) 49, nr 4/5 (lipiec 1994): 1183. http://dx.doi.org/10.2307/1533681.

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35

Schotsmans, P. "Genetics, ethics and human values. Human genome mapping, genetic screening and gene therapy". Health Policy 23, nr 3 (marzec 1993): 270–71. http://dx.doi.org/10.1016/0168-8510(93)90066-x.

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36

Karczewski, Konrad J., i Alicia R. Martin. "Analytic and Translational Genetics". Annual Review of Biomedical Data Science 3, nr 1 (20.07.2020): 217–41. http://dx.doi.org/10.1146/annurev-biodatasci-072018-021148.

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Understanding the influence of genetics on human disease is among the primary goals for biology and medicine. To this end, the direct study of natural human genetic variation has provided valuable insights into human physiology and disease as well as into the origins and migrations of humans. In this review, we discuss the foundations of population genetics, which provide a crucial context to the study of human genes and traits. In particular, genome-wide association studies and similar methods have revealed thousands of genetic loci associated with diseases and traits, providing invaluable information into the biology of these traits. Simultaneously, as the study of rare genetic variation has expanded, so-called human knockouts have elucidated the function of human genes and the therapeutic potential of targeting them.
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37

Morar, Nicolae. "Dynamic Aspects of Human Genetics: Is the Human Germline the Bioethical Key to Human Genetic Engineering?" American Journal of Bioethics 22, nr 9 (30.08.2022): 46–49. http://dx.doi.org/10.1080/15265161.2022.2105430.

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38

Falade, I. J., i O. N. Simeon. "The Human Genetics of Malaria". Acta Microbiologica Bulgarica 39, nr 3 (wrzesień 2023): 211–22. http://dx.doi.org/10.59393/amb23390301.

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Human genetic resistance to malaria is the inherited changes in the human DNA that increase resistance to malaria and lead to increased survival of people with these genetic changes. The evolutionary pressure exerted by the malaria parasite is likely what led to the existence of these genotypes. The impact of host genetics on susceptibility to Plasmodium falciparum malaria has been widely studied over the past twenty years. It is now clear that the malaria Plasmodium parasites have imposed strong selective forces on the human genome in endemic regions. Different genes associated with different malaria-related phenotypes have been identified. Recent developments in human genome research technologies, like genome-wide association studies and genotyping tools, have enabled the discovery of several genetic polymorphisms and biomarkers. This review describes and analyses the human gene polymorphisms that have been revealed to be associated with resistance to P. falciparum malaria. Although some polymorphisms play important roles in susceptibility to malaria, several discoveries are inconclusive and conflicting and should be carefully examined. The discovery of genetic polymorphisms associated with resistance to malaria will enable the development of interventions or cures for the malaria disease.
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39

Shkodinsky, S. V., i Y. Lu. "Возможности цифрового предприятия с точки зрения генетики человека". Вестник МИРБИС, nr 1(37) (20.03.2024): 63–72. http://dx.doi.org/10.25634/mirbis.2024.1.7.

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The article actualizes the problem of digital transformation of enterprises, which is based on a comparative analysis of the positive effects of human genetics. The authors describe in detail the possibilities of digitalization in human life based on human genetics, reveal the features of the process of digital transformation of the enterprise based on the functioning of the data processing center, comparing it with the activity of the human nervous system. The study substantiates the need to develop technological platforms to support the digital system and accelerate the achievement of business goals, citing the responsible key human genes as an example. В статье актуализируется проблема цифровой трансформации предприятий, которая основана на сравнительном анализе положительных эффектов генетики человека. Авторы подробно описывают возможности цифровизации в жизни человека на основе генетики человека, раскрывают особенности процесса цифровой трансформации предприятия на основе функционирования центра обработки данных, сравнивая его с деятельностью нервной системы человека. В исследовании обосновывается необходимость развития технологических платформ для поддержки цифровой системы и ускорения достижения бизнес-целей на примере ответственных ключевых генов человека.
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40

Chapman, Audrey R. "Ethics and Human Genetics". Annual of the Society of Christian Ethics 18 (1998): 293–303. http://dx.doi.org/10.5840/asce19981823.

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41

TOKUNAGA, KATSUSHI. "Human genetics of HLA." Japanese Journal of Clinical Immunology 19, nr 6 (1996): 541–43. http://dx.doi.org/10.2177/jsci.19.541.

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42

Anderson, W. French. "Genetics and Human Malleability". Hastings Center Report 20, nr 1 (styczeń 1990): 21. http://dx.doi.org/10.2307/3562969.

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43

Blasszauer, Bela, i Andrew Czeizel. "Human Genetics in Hungary". Hastings Center Report 20, nr 6 (listopad 1990): 39. http://dx.doi.org/10.2307/3563427.

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44

van Ommen, Gert-Jan B. "Human Genetics, a Prediction". European Journal of Human Genetics 4, nr 1 (1996): 1–2. http://dx.doi.org/10.1159/000472161.

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45

Shiels, A., i J. F. Hejtmancik. "Genetics of human cataract". Clinical Genetics 84, nr 2 (10.06.2013): 120–27. http://dx.doi.org/10.1111/cge.12182.

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46

Read, A. P. "Advances in Human Genetics". Journal of Medical Genetics 31, nr 3 (1.03.1994): 262. http://dx.doi.org/10.1136/jmg.31.3.262.

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47

Pembrey, M. "Advances in Human Genetics". Journal of Medical Genetics 22, nr 2 (1.04.1985): 158. http://dx.doi.org/10.1136/jmg.22.2.158-a.

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48

Harper, P. S. "Advances in Human Genetics". Journal of Medical Genetics 23, nr 3 (1.06.1986): 283. http://dx.doi.org/10.1136/jmg.23.3.283.

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49

Povey, S. "Advances in Human Genetics". Journal of Medical Genetics 24, nr 5 (1.05.1987): 318. http://dx.doi.org/10.1136/jmg.24.5.318.

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50

Kelly, T. E. "Advances in Human Genetics". Journal of Medical Genetics 25, nr 4 (1.04.1988): 285–86. http://dx.doi.org/10.1136/jmg.25.4.285-a.

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