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Journal articles on the topic 'Genetics – Research'

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Author: Grafiati

Published: 4 June 2021

Last updated: 31 July 2024

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1

Burrow, H. M., and B. M. Bindon. "Genetics research in the Cooperative Research Centre for Cattle and Beef Quality." Australian Journal of Experimental Agriculture 45, no. 8 (2005): 941. http://dx.doi.org/10.1071/ea05069.

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In its first 7-year term, the Cooperative Research Centre (CRC) for the Cattle and Beef Industry (Meat Quality) identified the genetic and non-genetic factors that impacted on beef eating quality. Following this, the CRC for Cattle and Beef Quality was established in 1999 to identify the consequences of improving beef eating quality and feed efficiency by genetic and non-genetic means on traits other than carcass and beef quality. The new CRC also had the responsibility to incorporate results from the first Beef CRC in national schemes such as BREEDPLAN (Australia’s beef genetic evaluation scheme) and Meat Standards Australia (Australia’s unique meat grading scheme that guarantees the eating quality of beef). This paper describes the integrated research programs and their results involving molecular and quantitative genetics, meat science, growth and nutrition and industry economics in the Beef CRC’s second phase (1999–2006) and the rationale for the individual genetics programs established. It summarises the planned scientific and beef industry outcomes from each of these programs and also describes the development and/or refinement by CRC scientists of novel technologies targeting increased genetic gains through enhanced measurement and recording in beef industry herds, thereby ensuring industry use of CRC results.

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2

FRAZIER, LORRAINE, and SHARON K. OSTWALD. "Genetics and Gerontological Nursing: A Need to Stimulate Research." Annual Review of Nursing Research 20, no. 1 (January 2002): 323–37. http://dx.doi.org/10.1891/0739-6686.20.1.323.

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The purpose of this chapter is to discuss how genetics will affect gerontological nursing. The chapter will answer two questions: (1) Which aspects of genetics will be most relevant to future gerontological nursing practice? and (2) What will be the impact of genetics on the future of gerontological nursing education and research? MEDLINE was searched for relevant articles from 1995 to 2001 using the key words aging, genetics, geriatrics, nursing education, research, and gerontology. CRISP was searched using the thesaurus terms education/planning, genetics, health education, model design/development, psychological model, pubic health curriculum, behavioral/social science research, and research nursing/genetics. A total of 101 nursing and nonnursing articles were reviewed. Research reports were selected if they focused on issues related to gerontological nursing. Articles were reviewed that had application to genetic nursing, complex diseases, and genetics.The evolution of the science of genetics will revolutionize gerontological nursing and affect future nursing education and research as the concepts of genetic science and the technology they generate are translated into everyday clinical practice. Genetic discoveries in common complex diseases will affect care provided by gerontological nurses in the 21st century. Gerontological nurses must move quickly to recognize this genetic paradigm shift and to incorporate genetics issues into their nursing practice.

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3

Aiello, Lisa, Jeffrey Petersen, Julie Ann Lynch, Lori Hoffman-Hogg, Nevena Damjanov, Kyle William Robinson, Yu-Ning Wong, Darshana Jhala, and Kara Noelle Maxwell. "Outcomes of an advanced practice nurse (APN)-led cancer genetics service." Journal of Clinical Oncology 40, no. 6_suppl (February 20, 2022): 71. http://dx.doi.org/10.1200/jco.2022.40.6_suppl.071.

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71 Background: In oncology practice, there are increasing numbers of patients for whom genetic testing is recommended by the National Cancer Care Network (NCCN), including all metastatic and high-risk localized prostate cancer patients. However, there is a critical shortage of genetics services providers. Acuity for these consults can be high, particularly in the context of a treatment related decision. We hypothesized that nurses, particularly advanced practice nurses (APNs), can provide a workforce within VA that can address genetic testing and genetic care needs of prostate cancer patients. Methods: We initiated a cancer genetics service staffed with an advanced practice nurse (APN) geneticist and evaluated the success of the program at a large urban, academic-affiliated Veteran’s Affairs Medical Center (VAMC). Results: In the one year prior to the initiation of the APN geneticist-run program (10/1/2019-9/30/2020), 61 unaffected patients with a family history of cancer and 85 patients with cancer (36 with prostate cancer) were referred to a VA centralized telegenetics service. An average of seven cancer patients (average three with prostate cancer) were referred to VA telegenetics per month. Genetic testing was completed in eleven (18%) of unaffected patients and 21 (25%) of cancer patients. Five (13%) of tested patients were found to have a pathogenic or likely pathogenic mutation or variant of uncertain significance (VUS). In the eight months after initiation of the APN geneticist-run consult service (10/1/2020 - 5/30/2021), 39 unaffected patients with a family history of cancer and 90 patients with cancer (38 with prostate cancer) were referred. An average of 11 cancer patients (average five with prostate cancer) per month were referred. This represents a 57% increase in all cancer patient and a 67% increase in prostate cancer patient referrals. For those patients referred to the APN geneticist-run consult service, genetic testing was completed in three (7%) of unaffected patients and 30 (33%) of cancer patients (including 15 prostate cancer patients). The genetic testing rate therefore improved from 1.7 oncology patients per month to 3.9 oncology patients per month, an 130% increase in genetic testing. For prostate cancer patients, the genetic testing rate improved from 0.8 to 1.9 patients tested per month, representing a 137% increase. Comparison of genetic testing outcomes at one year will be included in the final presentation. Conclusions: Inclusion of an APN geneticist-run consult service embedded in oncology clinics will likely improve access to genetics services and genetic testing rates in cancer patients.

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4

Mort, Mona A. "Ecological genetics of freshwater zooplankton: Current research and future perspectives." Archiv für Hydrobiologie 123, no. 2 (December 6, 1991): 129–41. http://dx.doi.org/10.1127/archiv-hydrobiol/123/1991/129.

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5

Dermody, Terence S., and Julie K. Pfeiffer. "Genetics in Virology Research." Annual Review of Virology 2, no. 1 (November 9, 2015): vii—x. http://dx.doi.org/10.1146/annurev-vi-2-102915-100011.

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6

Plomin, Robert, and Claire M. A. Haworth. "Genetics and Intervention Research." Perspectives on Psychological Science 5, no. 5 (September 2010): 557–63. http://dx.doi.org/10.1177/1745691610383513.

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7

Morpurgo, Giorgio. "Research inAspergillus nidulans genetics." Genetica 94, no. 2-3 (June 1994): 283–89. http://dx.doi.org/10.1007/bf01443442.

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8

Fuller, B. P. "ETHICS:Privacy in Genetics Research." Science 285, no. 5432 (August 27, 1999): 1359–61. http://dx.doi.org/10.1126/science.285.5432.1359.

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9

Maheswarappa, B. S., and A. Vinutha. "Collaborative research in genetics." International Library Review 21, no. 2 (April 1989): 173–76. http://dx.doi.org/10.1016/0020-7837(89)90005-8.

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10

Shumny, V. K. "Development of genetic research in the USSR." Genome 31, no. 2 (January 15, 1989): 900–904. http://dx.doi.org/10.1139/g89-160.

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Two periods of the development of genetic research in the USSR with reference to its current trends of plant and animal genetics, cytogenetics, and molecular genetics are reviewed. A short list of priority areas is established: the maintenance and use of unique gene pools of plants and animals; the domestication of animals and cultivation of new plants; the development of programmes for mathematical treatment of genetic data banks. It is suggested to consider them within the framework of international projects. The idea is to promote the collaborative efforts of scientists on an international scale.Key words: genetics in the USSR, current trends, international cooperation.

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11

Lashley, Felissa R. "Genetics and Nursing: The Interface in Education, Research, and Practice." Biological Research For Nursing 3, no. 1 (July 2001): 13–23. http://dx.doi.org/10.1177/109980040100300103.

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Genetics is affecting all of health care, including nursing. The way in which nurses think about planning health care must be seen now through a “genetic eye” or lens, and nurses must learn to “think genetically.” While efforts to integrate genetics into nursing began in earnest in the early 1980s, this effort did not accelerate until the mid-1990s. Before nursing can fully incorporate genetic knowledge into education and practice in a meaningful way, the ways in which genetics will influence health care must be understood. The basic knowledge, skills, and attitudes needed by health professionals are discussed as well as their integration into education and practice. Opportunities for nursing research in genetics are presented as are possible directions. Recommendations for facilitating the integration of genetics into nursing education, practice, and research are also presented.

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12

Pinheiro, Andréa Poyastro, Patrick F. Sullivan, Josue Bacaltchuck, Pedro Antonio Schmidt do Prado-Lima, and Cynthia M. Bulik. "Genetics in eating disorders: extending the boundaries of research." Revista Brasileira de Psiquiatria 28, no. 3 (August 9, 2006): 218–25. http://dx.doi.org/10.1590/s1516-44462006005000004.

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OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

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13

Prokop, Edyta Kinga, Paweł Piotr Jagodziński, and Stefan Grajek. "Genetics in familial hypercholesterolaemia – from genetic research to new guidelines." Journal of Medical Science 88, no. 3 (April 3, 2019): 192–94. http://dx.doi.org/10.20883/jms.245.

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Familial Hypercholesterolaemia (FH) is genetic disorder touching up to 1 to 250 people, increasing the risk of atherosclerotic cardiovascular disease risk and early death by 3–13 times. The majority of mutations are autosomal dominant among 3 genes related to cholesterole metabolism: LDL‑receptor (LDLR), apolipoprotein B (APOB) or proprotein convertase subtilisin/kexin type 9 (PCSK9). It comprises 60% of reported cases, which still is not at satisfactory level. This article summarizes new research in the field of FH and points out new therapeutic methods — PCSK9 inhibitors as advised in new European Society of Cardiology guidelines od dyslipidaemias.

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14

Berg, Kåre. "DNA sampling and banking in clinical genetics and genetic research." New Genetics & Society 20, no. 1 (April 1, 2001): 59–68. http://dx.doi.org/10.1080/14636770120010.1080/14636770120034646.

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15

Berg, Kåre. "DNA sampling and banking in clinical genetics and genetic research." New Genetics and Society 20, no. 1 (April 2001): 59–68. http://dx.doi.org/10.1080/14636770123300.

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16

Wangler, Michael F., Shinya Yamamoto, and Hugo J. Bellen. "Fruit Flies in Biomedical Research." Genetics 199, no. 3 (January 26, 2015): 639–53. http://dx.doi.org/10.1534/genetics.114.171785.

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17

Sisodiya, Sanjay, J. Helen Cross, Ingmar Blümcke, David Chadwick, John Craig, Peter B. Crino, Paul Debenham, et al. "Genetics of epilepsy: Epilepsy Research Foundation workshop report." Epileptic Disorders 9, no. 2 (June 2007): 194–236. http://dx.doi.org/10.1684/epd.2007.0107.

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ABSTRACT The Sixth Epilepsy Research Foundation workshop, held in Oxford in March 2006, brought together basic scientists, geneticists, epidemiologists, statisticians, pharmacologists and clinicians to consider progress, issues and strategies for harnessing genetics to improve the understanding and treatment of the epilepsies. General principles were considered, including the fundamental importance of clear study design, adequate patient numbers, defined phenotypes, robust statistical data handling, and follow‐up of genetic discoveries. Topics where some progress had been made were considered including chromosomal abnormalities, neurodevelopment, hippocampal sclerosis, juvenile myoclonic epilepsy, focal cortical dysplasia and pharmacogenetics. The ethical aspects of epilepsy genetics were reviewed. Principles and limitations of collaboration were discussed. Presentations and their matched discussions are produced here. There was optimism that further genetic research in epilepsy was not only feasible, but might lead to improvements in the lives of people with epilepsy.

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18

Erbeli, Florina, Marianne Rice, and Silvia Paracchini. "Insights into Dyslexia Genetics Research from the Last Two Decades." Brain Sciences 12, no. 1 (December 26, 2021): 27. http://dx.doi.org/10.3390/brainsci12010027.

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Dyslexia, a specific reading disability, is a common (up to 10% of children) and highly heritable (~70%) neurodevelopmental disorder. Behavioral and molecular genetic approaches are aimed towards dissecting its significant genetic component. In the proposed review, we will summarize advances in twin and molecular genetic research from the past 20 years. First, we will briefly outline the clinical and educational presentation and epidemiology of dyslexia. Next, we will summarize results from twin studies, followed by molecular genetic research (e.g., genome-wide association studies (GWASs)). In particular, we will highlight converging key insights from genetic research. (1) Dyslexia is a highly polygenic neurodevelopmental disorder with a complex genetic architecture. (2) Dyslexia categories share a large proportion of genetics with continuously distributed measures of reading skills, with shared genetic risks also seen across development. (3) Dyslexia genetic risks are shared with those implicated in many other neurodevelopmental disorders (e.g., developmental language disorder and dyscalculia). Finally, we will discuss the implications and future directions. As the diversity of genetic studies continues to increase through international collaborate efforts, we will highlight the challenges in advances of genetics discoveries in this field.

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19

Finkeldey, Reiner. "Forschung zur Vielfalt, vielfältige Forschung: Ziele und Wege der Forstgenetik | Research on diversity, diverse research: objectives and approaches in forest genetics." Schweizerische Zeitschrift fur Forstwesen 152, no. 5 (May 1, 2001): 162–68. http://dx.doi.org/10.3188/szf.2001.0162.

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The genetic information about forest trees is not only of crucial importance for the yield of forestry production systems,but also for determining the evolutionary adaptive potential of tree populations. Thus, the stability of forest ecosystems depends on the sustainable management of forest genetic resources. In this context, tree breeding and conservation of forest genetic resources are mentioned as main applications of research in forest genetics. Genetic inventories are conducted in order to observe the spatial distribution of genetic information at gene marker loci. Such studies allow us to elucidate the evolutionary history of populations and, thus, to draw conclusions about their evolutionary adaptability. Results of a genetic inventory of oak (Quercus spp.) populations native to Switzerland are presented, and their significance for the characterization of genetic systems and adaptive potential is discussed. Future research into forest genetics should aim at improving our understanding of the relationship between variation at biochemical and molecular marker loci and adaptive processes in forest tree populations. The temporal dynamics of genetic structures of forest tree populations as a consequence of anthropogenic environmental change is another important topic of forest genetics in particular for the conservation of rare species.

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20

Mattsson, C. Mikael, Matthew T. Wheeler, Daryl Waggott, Colleen Caleshu, and Euan A. Ashley. "Sports genetics moving forward: lessons learned from medical research." Physiological Genomics 48, no. 3 (March 2016): 175–82. http://dx.doi.org/10.1152/physiolgenomics.00109.2015.

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Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.

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21

Watanabe, Kazuo. "Research work undertaken in the Plant Transgenic Design Initiative in the Gene Research Center within Tsukuba Plant Innovation Research Center." Impact 2020, no. 3 (May 13, 2020): 6–8. http://dx.doi.org/10.21820/23987073.2020.3.6.

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The burgeoning area of plant genetics may hold the key to overcoming some of the most pressing environmental challenges. For example, crops can be genetically improved to make them better able to adapt to climate change, while genetic engineering of crops could help to address food security challenges. As such, a comprehensive understanding of plant genetics may enable humankind to make headway in addressing climate change and resulting challenges. Research in this area is therefore paramount. Research work undertaken in the Plant Transgenic Design Initiative (PTraD) in the Gene Research Center (GRC) within Tsukuba Plant Innovation Research Center (T-PIRC), located at the University of Tsukuba in Japan, is focused on plant sciences and biotechnologies. The PTraD is the centre of excellence in plant biotechnology research in Japan, shedding light on plant genetics and how this can be harnessed to solve environmental challenges such as climate change.

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22

Watanabe, Kazuo. "Research work undertaken in the Plant Transgenic Design Initiative in the Gene Research Center within Tsukuba Plant Innovation Research Center." Impact 2020, no. 6 (November 16, 2020): 86–88. http://dx.doi.org/10.21820/23987073.2020.6.86.

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The burgeoning area of plant genetics may hold the key to overcoming some of the most pressing environmental challenges. For example, crops can be genetically improved to make them better able to adapt to climate change, while genetic engineering of crops could help to address food security challenges. As such, a comprehensive understanding of plant genetics may enable humankind to make headway in addressing climate change and resulting challenges. Research in this area is therefore paramount. Research work undertaken in the Plant Transgenic Design Initiative (PTraD) in the Gene Research Center (GRC) within Tsukuba Plant Innovation Research Center (T-PIRC), located at the University of Tsukuba in Japan, is focused on plant sciences and biotechnologies. The PTraD is the centre of excellence in plant biotechnology research in Japan, shedding light on plant genetics and how this can be harnessed to solve environmental challenges such as climate change.

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23

Dotlačil, L. "Fifty years of research on genetics and plant breeding in the Research Institute of Crop Production, Prague-Ruzyně." Czech Journal of Genetics and Plant Breeding 38, No. 1 (July 30, 2012): 1–2. http://dx.doi.org/10.17221/6105-cjgpb.

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24

Dietrich, Michael R., Rachel A. Ankeny, and Patrick M. Chen. "Publication Trends in Model Organism Research." Genetics 198, no. 3 (November 2014): 787–94. http://dx.doi.org/10.1534/genetics.114.169714.

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25

Biggins, Sue. "Under Tension: Kinetochores and Basic Research." Genetics 200, no. 3 (July 2015): 681–82. http://dx.doi.org/10.1534/genetics.115.178467.

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26

Falk, Raphael. "Mutagenesis as a Genetic Research Strategy." Genetics 185, no. 4 (August 2010): 1135–39. http://dx.doi.org/10.1534/genetics.110.120469.

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27

Viggiano, Emanuela. "Molecular Research in Medical Genetics." International Journal of Molecular Sciences 23, no. 12 (June 14, 2022): 6625. http://dx.doi.org/10.3390/ijms23126625.

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28

Allegra, Sarah. "Cancer Genetics and Clinical Research." Journal of Personalized Medicine 12, no. 10 (October 4, 2022): 1649. http://dx.doi.org/10.3390/jpm12101649.

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29

Merz, Jon F. "Is Genetics Research "Minimal Risk"?" IRB: Ethics and Human Research 18, no. 6 (November 1996): 7. http://dx.doi.org/10.2307/3564524.

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30

Grauke, L. J., T. E. Thompson, and A. S. Reddy. "AFLPs in Pecan Genetics Research." HortScience 33, no. 3 (June 1998): 527b—527. http://dx.doi.org/10.21273/hortsci.33.3.527b.

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Procedures were refined for extraction and amplification of DNA from pecan [Carya illinoinensis (Wangenh.) K. Koch] leaf tissue. Genomic DNA was extracted from leaf tissue from multiple inventories of `Wichita' and `Pawnee' and processed for Amplified Fragment Length Polymorphism (AFLPs). Using only four AFLP primers, 26 polymorphisms were identified, verifying the reproducibility and consistency of amplification. The application and limitation of the procedure for separating genotypes will be discussed. Twenty-four cultivars and seedlings representing the geographic range of the species were analyzed using 10 primer combinations. Despite the small sample size, polymorphic bands apparently associated with geographic origin were apparent. Individuals from selected controlled-cross families of the Pecan Breeding Program were bulked according to disease reaction and screened using 64 primers. Primary primers were selected on the basis of polymorphisms observed in bulked samples of resistant and susceptible genotypes. Eighteen primer combinations were selected for use on all individuals in the test. The candidate markers were evaluated to verify that parental lines were polymorphic for the trait, reducing to one the number of appropriate primers. That primer was used to screen 84 progeny samples phenotypically rated for disease resistance levels. The data were analyzed for linkage to scab resistance in the population. Factors limiting the utility of AFLPs as tools for selection of disease resistant genotypes, and their use in developing markers for heterodichogamy (a simple dominant genetic system) will also be discussed.

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31

Lesperance, Marci, Stephen B. Gruber, and Christina L. Runge-Samuelson. "Genetics in Otolaryngology: Translational Research." Otolaryngology–Head and Neck Surgery 145, no. 2_suppl (August 2011): P32. http://dx.doi.org/10.1177/0194599811415818a69.

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32

Frankel, Mark S. "Congressional hearings on genetics research." Nature 393, no. 6686 (June 1998): 618. http://dx.doi.org/10.1038/31329.

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33

JOSEPH, JAY. "Research Paradigms of Psychiatric Genetics." American Journal of Psychiatry 162, no. 10 (October 2005): 1985. http://dx.doi.org/10.1176/appi.ajp.162.10.1985.

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34

DeCamp, Matthew, and Jeremy Sugarman. "Ethics in Behavioral Genetics Research." Accountability in Research 11, no. 1 (January 2004): 27–47. http://dx.doi.org/10.1080/725289013.

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35

Schwachtje, Jens, Susan Kutschbach, and Ian T. Baldwin. "Reverse Genetics in Ecological Research." PLoS ONE 3, no. 2 (February 6, 2008): e1543. http://dx.doi.org/10.1371/journal.pone.0001543.

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36

Hammock, Elizabeth A. D. "Biologically constrained behavioral genetics research." Politics and the Life Sciences 30, no. 02 (2011): 93–97. http://dx.doi.org/10.1017/s0730938400014076.

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From a biologist's perspective, social behavior includes any behavior that involves at least two actors. By this definition, social behavior can include aggregation in slime molds, the colony structure of the eusocial insects, or the coordinated efforts of humans across vast distances to successfully land on the moon. The diversity of this range of behavior shares one driving force: natural selection. While natural selection acts at the level of phenotype (e.g., morphology, metabolism, behavior) the ultimate unit of natural selection is the gene contained in DNA-the object of inheritance. The relationship between DNA and social behavior is uncovered in the field of sociogenomics, defined as the mechanistic study of genes, gene products, and gene × gene interaction networks supporting emergent social behaviors.

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37

Hammock, Elizabeth A. D. "Biologically constrained behavioral genetics research." Politics and the Life Sciences 30, no. 2 (2011): 93–97. http://dx.doi.org/10.2990/30_2_93.

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From a biologist's perspective, social behavior includes any behavior that involves at least two actors. By this definition, social behavior can include aggregation in slime molds, the colony structure of the eusocial insects, or the coordinated efforts of humans across vast distances to successfully land on the moon. The diversity of this range of behavior shares one driving force: natural selection. While natural selection acts at the level of phenotype (e.g., morphology, metabolism, behavior) the ultimate unit of natural selection is the gene contained in DNA-the object of inheritance. The relationship between DNA and social behavior is uncovered in the field of sociogenomics, defined as the mechanistic study of genes, gene products, and gene × gene interaction networks supporting emergent social behaviors.

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38

Chatterji, Somnath, Sanjeev Jain, Samir K. Brahmachari, Partha Majumder, and Theodore Reich. "International collaboration in genetics research." Nature Genetics 15, no. 2 (February 1997): 124. http://dx.doi.org/10.1038/ng0297-124.

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39

Papadimtriou, George N., Dimitris G. Dikeos, and Costas N. Stefanis. "Psychiatric genetics research in Greece." Psychiatric Genetics 9, no. 3 (September 1999): 115–22. http://dx.doi.org/10.1097/00041444-199909000-00001.

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40

Tutton, Richard. "Gift Relationships in Genetics Research." Science as Culture 11, no. 4 (December 2002): 523–42. http://dx.doi.org/10.1080/0950543022000028965.

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41

Keshavan, Matcheri S., and Kunal Sanghavi. "Psychiatric genetics research in Asia." Asian Journal of Psychiatry 5, no. 2 (June 2012): 123–24. http://dx.doi.org/10.1016/j.ajp.2012.05.007.

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42

Prathikanti, Sridhar, and Daniel R. Weinberger. "Psychiatric genetics – the new era: genetic research and some clinical implications." British Medical Bulletin 73-74, no. 1 (January 1, 2005): 107–22. http://dx.doi.org/10.1093/bmb/ldh055.

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43

Ommen, G. J. B. van, and P. L. Pearson. "Long-range mapping in the research and diagnosis of genetic disease." Genome 31, no. 2 (January 15, 1989): 730–36. http://dx.doi.org/10.1139/g89-131.

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This paper reviews current genetic and molecular biological methods that may be used in the so-called "reverse genetics" approach. These methods are the mapping, isolation, and study of the chromosomal DNA containing a previously unidentified gene responsible for a genetic disease, beginning with its chromosomal localization. In principle, the reverse genetics methodology follows the same path for different diseases studied. An overall outline of the steps to be undertaken is given and discussed. Several stages are illustrated with reference to current research in the fields of Duchenne muscular dystrophy, Huntington's disease, and polycystic kidney disease.Key words: human genetic disease, Duchenne muscular dystrophy, Huntington disease, polycystic kidney disease, reverse genetics.

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44

Tabakov, V. Yu. "Management of biobanking for medical genetics research." Cardiovascular Therapy and Prevention 20, no. 8 (January 9, 2022): 3027. http://dx.doi.org/10.15829/1728-8800-2021-3027.

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Biobanking is one of the most important elements of the modern infrastructure for biomedical research. Organization of a biobank on the basis of the N. P. Bochkov Medical Genetics Research Center provides a centralized infrastructure for preparing biomaterial for research. Biobank has the format of a research equipment sharing center and works with two types of unique biomaterials from patients with genetic diseases: blood/blood components and vital cells of various tissue origin. The storage facility of the Biobank is equipped with low-temperature (-80° C) and cryostorage (-196° C) systems. Identification and search of samples is carried out using a bar-coding system and is implemented through the information interface of the biobank, which is integrated into the general database of patients at the Medical Genetics Research Center. Information on biomaterial samples is presented in periodically updated catalogs on the page of equipment sharing center “Biobank”. Biobank collection is available to internal and external users.

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Lynch, Henry T., and Jane F. Lynch. "Breast cancer genetics: Family history, heterogeneity, molecular genetic diagnosis, and genetic counseling." Current Problems in Cancer 20, no. 6 (November 1996): 329–65. http://dx.doi.org/10.1016/s0147-0272(96)80010-9.

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Vijayalakshmi, N., Dr P.Sekhar, and Dr G.Mokesh Rayalu. "Estimation of Gene Frequencies in Clinical Research." International Journal of Engineering & Technology 7, no. 4.10 (October 2, 2018): 508. http://dx.doi.org/10.14419/ijet.v7i4.10.21213.

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Biometrics is a branch of statistics in which various mathematical and statistical techniques can be applied to biological research problems. These are two main areas of specialization of Biometry namely, Bioassays and Quantitative Genetics. Genetics concerns with Heredity and variation. Quantitative Genetics is concerned with the inheritances of quantitative differences between individuals.The essence of Quantitative Genetics is to estimate the genetic parameters such as Gene frequencies, segregation Ratios, Recombination of Genes and so on. Among them, the estimation of Gene Frequencies in the population is an important one. The proportion or percentage of genes in the population is called gene Frequency. In the present research articles, the ABO blood group system of man has been described by discussing the multiple alleles; genotypes, Frequencies and phenotypes of blood groups. The various estimation methods for estimating gene frequencies have gene presents in the present study.

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Baumgart, Leigh A., Kristen J. Postula, Peter J. Hulick, and William A. Knaus. "Identifying patients at increased cancer risk: Validation of the Health Heritage risk assessment and decision support tool." Journal of Clinical Oncology 32, no. 30_suppl (October 20, 2014): 277. http://dx.doi.org/10.1200/jco.2014.32.30_suppl.277.

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277 Background: Family history is critical to assess risk for cancer and inherited cancer syndromes. National Comprehensive Cancer Network (NCCN) guidelines are available to aid in identification and management of at-risk patients, but the guidelines are complex and ever-changing, hindering optimal use. This leads to under-recognition and mismanagement of high-risk patients. To address this need, we have developed and have fully implemented Health Heritage (HH), a web-based risk assessment and decision support tool. HH combines clinical data automatically extracted from a patient’s EHR with information entered by patients and shared between family members to provide personalized risk assessment and recommendations related to common cancers. This study aims to validate HH’s ability to properly identify patients who meet NCCN guidelines for a genetics evaluation and to stratify cancer risk. Methods: We performed a retrospective chart review of 100 patients seen at an adult genetics clinic in 2012. Relevant personal and family medical history and genetic test results were entered into HH. Independent of the HH assessment, each patient’s information was reviewed by a genetic counselor to assess fulfillment of NCCN guidelines for a genetics evaluation. A subset of records was reviewed to compare cancer risk stratification between HH and a medical geneticist. Results: 87 patients met NCCN guidelines for a genetics evaluation for breast/ovarian cancer, 2 for colorectal cancer, and 3 for multiple cancers; 8 patients did not meet guidelines. HH had a sensitivity of 98% and specificity of 88% in identifying patients who met these guidelines. For patients at increased risk for breast, ovarian, or colorectal cancer as determined by a medical geneticist, HH agreed 83%, 86%, and 75% of the time, respectively. Discordances were the result of both complex clinical situations better handled by the geneticist and also HH’s strict adherence to incorporating all information. Conclusions: Health Heritage is a highly sensitive tool for identifying at-risk patients appropriate for a genetics evaluation and its risk stratification is complementary in high risk settings requiring management recommendations.

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Bilder, David, and Kenneth D. Irvine. "Taking Stock of the Drosophila Research Ecosystem." Genetics 206, no. 3 (July 2017): 1227–36. http://dx.doi.org/10.1534/genetics.117.202390.

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Manney, T. R., and M. L. Manney. "Using yeast genetics to generate a research environment." Genetics 134, no. 1 (May 1, 1993): 387–91. http://dx.doi.org/10.1093/genetics/134.1.387.

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Abstract Many of the same features of the yeast Saccharomyces cerevisiae that have made it so useful as a genetics and molecular biology research organism make it equally useful as a teaching organism. Furthermore, the fact that it is a modern research organism makes it all the more exciting to students and teachers. The unique characteristic of yeast as a unicellular, eukaryotic organism with a complete sexual life cycle is ideal for teaching. A simple monohybrid cross to explore dominance and recessiveness, a dihybrid cross to demonstrate independent assortment, pigmented adenine auxotrophs for investigating the fundamentals of gene action, and easily measured responses to ultraviolet radiation provide an array of appropriate laboratory tools that put real science in the hands of students and teachers. Direct collaborations between scientists and science teachers bring together complementing knowledge and experience, providing an effective and efficient way to adapt and simplify techniques and procedures to accommodate time and money constraints. Collaborations quickly identify technical and theoretical problems that must be solved for implementation in classrooms. They also provide a continuing stimulus to teachers and students to participate in the research process.

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Rutter, Michael. "Implications of Genetic Research for Child Psychiatry." Canadian Journal of Psychiatry 42, no. 6 (August 1997): 569–76. http://dx.doi.org/10.1177/070674379704200602.

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Objective: To review implications of genetic research in child psychiatry. Method: Key advances in quantitative and molecular genetics are noted and findings are summarized with respect to autism, attention-deficit hyperactivity disorder, oppositional defiant and conduct disorders, depression, schizophrenia, and Tourette's syndrome. Conclusions: Genetic findings will be helpful clinically in the elucidation of disordered brain processes, the understanding of nature–nurture interplay, diagnosis, genetic counselling, and pharmacotherapy.

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