Human Genetics and McKusick's "Mendelian Inheritance" in Man

1988 ◽  
Vol 50 (5) ◽  
pp. 262-265 ◽  
Author(s):  
Thomas R. Mertens
Keyword(s):  
Human Genetics ◽  
Mendelian Inheritance

scholarly journals Recapitulation and Retrospective Prediction of Biomedical Associations Using Temporally-enabled Word Embeddings

2019 ◽  
Author(s):  
Jiho Park ◽  
Agustin Lopez Marquez ◽  
Arjun Puranik ◽  
Ajit Rajasekharan ◽  
Murali Aravamudan ◽  
...  
Keyword(s):  
Disease Gene ◽  
Human Genetics ◽  
Area Under The Curve ◽  
Mendelian Inheritance ◽  
Word Embeddings ◽  
Current Standard ◽  
Biomedical Knowledge ◽  
Knowledge Based ◽  
Gene Associations ◽  
Standard Practices

AbstractThe recent explosion of biomedical knowledge presents both a major opportunity and challenge for scientists tackling complex problems in healthcare. Here we present an approach for synthesizing biomedical knowledge based on a combination of word-embeddings and select cooccurrences. We evaluated our ability to recapitulate and retrospectively predict disease-gene associations from the Online Mendelian Inheritance in Man (OMIM) resource. Our metrics achieved an area under the curve (AUC) value of 0.981 at the recapitulation task for 2,400 disease-gene associations. At the most stringent cutoff, our metrics predicted 13.89% of these associations before their first cooccurrence in the literature, with a median time of 4 years between prediction and first cooccurrence. Finally, our literature metrics can be combined with human genetics data to retrospectively predict disease-gene associations, IL-6 and Giant Cell Arteritis provided as an example. We believe this framework can provide robust biomedical hypotheses at a much faster pace than current standard practices.

Statistical Modeling of Interlocus Interactions in a Complex Disease: Rejection of the Multiplicative Model of Epistasis in Type 1 Diabetes

Genetics ◽  
2001 ◽  
Vol 158 (1) ◽  
pp. 357-367
Author(s):  
Heather J Cordell ◽  
John A Todd ◽  
Natasha J Hill ◽  
Christopher J Lord ◽  
Paul A Lyons ◽  
...  
Keyword(s):  
Type 1 Diabetes ◽  
Statistical Modeling ◽  
Complex Disease ◽  
Human Genetics ◽  
Disease Model ◽  
Mendelian Inheritance ◽  
Multiplicative Model ◽  
Linkage Data ◽  
Congenic Strains

Abstract In general, common diseases do not follow a Mendelian inheritance pattern. To identify disease mechanisms and etiology, their genetic dissection may be assisted by evaluation of linkage in mouse models of human disease. Statistical modeling of multiple-locus linkage data from the nonobese diabetic (NOD) mouse model of type 1 diabetes has previously provided evidence for epistasis between alleles of several Idd (insulin-dependent diabetes) loci. The construction of NOD congenic strains containing selected segments of the diabetes-resistant strain genome allows analysis of the joint effects of alleles of different loci in isolation, without the complication of other segregating Idd loci. In this article, we analyze data from congenic strains carrying two chromosome intervals (a double congenic strain) for two pairs of loci: Idd3 and Idd10 and Idd3 and Idd5. The joint action of both pairs is consistent with models of additivity on either the log odds of the penetrance, or the liability scale, rather than with the previously proposed multiplicative model of epistasis. For Idd3 and Idd5 we would also not reject a model of additivity on the penetrance scale, which might indicate a disease model mediated by more than one pathway leading to β-cell destruction and development of diabetes. However, there has been confusion between different definitions of interaction or epistasis as used in the biological, statistical, epidemiological, and quantitative and human genetics fields. The degree to which statistical analyses can elucidate underlying biologic mechanisms may be limited and may require prior knowledge of the underlying etiology.

scholarly journals Diagnosis of Mendelian Inherited Disorders in Dogs: Brief Literature Review

2020 ◽  
Vol 77 (1) ◽  
pp. 9
Author(s):  
Vlad COCOSTÎRC ◽  
Dana Liana PUSTA
Keyword(s):  
Human Genetics ◽  
Gene Mutations ◽  
Mendelian Inheritance ◽  
Hereditary Diseases ◽  
Genomic Research ◽  
Future Research ◽  
Inherited Disorders ◽  
Gene Variation ◽  
Multiple Variables ◽  
Pattern Number

Genomic research of hereditary diseases is highly significant in the development of specific diagnostic markers meant to identify dogs carrying gene mutations. The Online Mendelian Inheritance in Animals database shows that there are 324 Mendelian disorders in dogs, of which 247 have their likely causal gene variation identified. The remaining disorders are candidates for future research in dog and human genetics, as it may lead to the description of the causative genomic variants in both species. This paper aims to briefly describe the techniques currently used in the research of dog genetics. Choosing the proper technique is fundamental, as it may differ in accordance to multiple variables such as transmission pattern, number of individuals taken into study and the quality and quantity of the existing information.

Genetics of Adult Cognitive Disorders

2019 ◽  
pp. 796-810
Author(s):  
Laney Evers ◽  
Courtney Verscaj ◽  
Jesse Mez
Keyword(s):  
Human Genetics ◽  
Genetic Research ◽  
Cognitive Disorders ◽  
Mendelian Inheritance ◽  
Environment Interaction ◽  
Research Information ◽  
Inheritance Patterns ◽  
Gene Environment ◽  
Genome Wide ◽  
Complex Inheritance

This chapter reviews fundamental principles of genetics and genomics as well as many of the analytic tools available to conduct genetic research. Information is presented in the context of genetic research on well-understood adult cognitive disorders. Specifically, this chapter utilizes Huntington’s disease to explain concepts related to diseases with Mendelian inheritance patterns, and it uses Alzheimer’s disease to discuss topics related to diseases with complex inheritance patterns. An array of topics are covered, including how genetic information is inherited, linkage analysis, genome-wide association, missing heritability, next-generation sequencing, epistasis, gene–environment interaction, and epigenetics. Although not fully comprehensive, the chapter does provide sufficient background that the clinician and clinical researcher can begin to competently review the human genetics literature and can effectively communicate with their genetics colleagues.

Principles of Human Genetics and Mendelian Inheritance

2018 ◽  
pp. 1-28 ◽  
Author(s):  
Dominique P. Germain ◽  
Iulia E. Jurca-Simina
Keyword(s):  
Human Genetics ◽  
Mendelian Inheritance

A survey of human genetics in the dental school curriculum

1977 ◽  
Vol 41 (9) ◽  
pp. 563-566
Author(s):  
RG Sanger ◽  
RE Stewart
Keyword(s):  
Human Genetics ◽  
School Curriculum ◽  
Dental School

Human Genetics

1986 ◽  
Author(s):  
Friedrich Vogel ◽  
Arno G. Motulsky
Keyword(s):  
Human Genetics

Getting the Measure of Twins

2018 ◽  
Author(s):  
William Viney
Keyword(s):  
Environmental Effects ◽  
Natural Experiment ◽  
Human Genetics ◽  
Scientific Research ◽  
Identical Twin ◽  
Social Scientists ◽  
Modern Biology ◽  
Stephen Jay Gould

Stephen Jay Gould, the biologist and author, once joked that were he an identical twin raised separately from his brother they could ‘hire ourselves out to a host of social scientists and practically name our fee’. In order to monetise Gould’s fantasy, one would want a form of twinship that could operate according to evidential, experimental, somatic and circumstantial ideals. And Gould admits that he and his brother would need to be viewed as ‘the only really adequate natural experiment for separating genetic from environmental effects in humans’. This chapter seeks to interrogate the evidential and experimental circumstances that may underpin the comic quips that guide modern biology. In human genetics, twins are used as experimental bodies that are made to matter in particular ways and for particular people; they become newly ‘animate’ for being enrolled into scientific research. Raised in cultures assumed to be alike or dissimilar, isolated by researchers for being valuable in the measured disentanglement of assembled molecular agents (which are sometimes distinguished from an assemblage referred to as an ‘environment’), twins achieve a status of experimental significance not just for what they do but also for what they are taken to be.

Genetics in Ophthalmology

2020 ◽  
pp. 44-45
Author(s):  
А.Ю. Рудник ◽  
М.А. Федяков ◽  
О.С. Глотов
Keyword(s):  
Genetic Basis ◽  
Genetic Diseases ◽  
Mendelian Inheritance ◽  
Diagnostic Screening ◽  
Online Mendelian Inheritance ◽  
Clinical Diagnostic ◽  
Omim Database

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

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