Progressing from Eugenics to Human Genetics

Li, C.C.

doi:10.1159/000022888

Cited by 10 publications

(2 citation statements)

References 4 publications

(1 reference statement)

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“…The modifying effect model previously described by Li and Reich (2000) was used as the template for estimating the penetrance functions for interaction effects that include both a main effect and an interaction effect between the main effect and another SNP. In this model, an individual is affected if they are homozygous for the disease allele (in this case the minor allele) from the main effect locus regardless of what alleles they carry at the second locus, or if they are heterozygous at the main effect locus and heterozygous or homozygous for the minor allele at the secondary locus.…”

Section: Methodsmentioning

confidence: 99%

Multifactor Dimensionality Reduction as a Filter-Based Approach for Genome Wide Association Studies

Oki¹,

Motsinger‐Reif²

2011

Front. Gene.

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Advances in genotyping technology and the multitude of genetic data available now provide a vast amount of data that is proving to be useful in the quest for a better understanding of human genetic diseases through the study of genetic variation. This has led to the development of approaches such as genome wide association studies (GWAS) designed specifically for interrogating variants across the genome for association with disease, typically by testing single locus, univariate associations. More recently it has been accepted that epistatic (interaction) effects may also be great contributors to these genetic effects, and GWAS methods are now being applied to find epistatic effects. The challenge for these methods still remain in prioritization and interpretation of results, as it has also become standard for initial findings to be independently investigated in replication cohorts or functional studies. This is motivating the development and implementation of filter-based approaches to prioritize variants found to be significant in a discovery stage for follow-up for replication. Such filters must be able to detect both univariate and interactive effects. In the current study we present and evaluate the use of multifactor dimensionality reduction (MDR) as such a filter, with simulated data and a wide range of effect sizes. Additionally, we compare the performance of the MDR filter to a similar filter approach using logistic regression (LR), the more traditional approach used in GWAS analysis, as well as evaporative cooling (EC)-another prominent machine learning filtering method. The results of our simulation study show that MDR is an effective method for such prioritization, and that it can detect main effects, and interactions with or without marginal effects. Importantly, it performed as well as EC and LR for main effect models. It also significantly outperforms LR for various two-locus epistatic models, while it has equivalent results as EC for the epistatic models. The results of this study demonstrate the potential of MDR as a filter to detect gene–gene interactions in GWAS studies.

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Section: Methodsmentioning

confidence: 99%

Multifactor Dimensionality Reduction as a Filter-Based Approach for Genome Wide Association Studies

Oki¹,

Motsinger‐Reif²

2011

Front. Gene.

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“…Set in the context of criticizing eugenics, C. C. Li (2000), the renowned population geneticist, discussed the kinds and costs of errors associated with verdicts of false innocence and false guilt for horse stealing. Viewed through the life span-genetic prism, I see merit in extending the analogy to the task of identifying a young person who may be at sufficiently high risk of developing schizophrenia that an attempt to prevent a future first episode of illness is considered worth possible harm from the medication itself (see -lmling, 2001;Tsuang et al, 1999).…”

Section: Proceed With Caution-premature Implementationmentioning

confidence: 99%

2001 award winners.

2001

American Psychologist

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tion, showing how theoretical models, influenced by the newly developing area of computer science, could provide tools for investigating attention, perception, and memory, problems that had been regarded as totally intractable by earlier behaviorist approaches.By this time, Baddeley's rat experiment had appeared, but Hullian psychology had disappeared. The rapidity with which theoretical fashions changed impressed him and encouraged adopting a style of theorizing whereby the theory kept quite close to the empirical data, in the hope that it would prove more durable, if less exciting, than more ambitious flights of theoretical speculation.Conrad was a brilliant applied psychologist who at this time was carrying out extensive work on the design of codes that is still highly relevant, though rarely heeded. Broadbent's work had suggested the need to consider separate short-term memory (STM) and long-term memory (LTM) systems, and Conrad's observation of acoustic intrusion errors in the recall of letter codes suggested that STM relies on an acoustic code.At this time, Baddeley's own work was principally concerned with LTM, but while Conrad was away on sabbatical, he began to play with Conrad's new phenomenon. Like the sorcerer's apprentice, he was captivated by it and has been working on acoustic similarity ever since. In particular, work with a colleague and friend, Harold Dale, seemed to indicate that whereas STM relied principally on an acoustic code, LTM was more dependent on semantic coding. Baddeley also developed an interest in applied research, including the underwater study of divers, which subsidized a hobby and subsequently led to work with Duncan Godden showing very clear context-dependent memory effects.After nine years in Cambridge, the opportunity arose to join the new University of Sussex. The experimental psychology department there was led by Stewart Sutherland, like Donald Broadbent, a charismatic figure, though of a rather more rumbustious temperament. The department proved to be an extremely open and intellectually lively one. The need to teach also broadened Baddeley's horizons, as did the amval of his first doctoral students, Arnold Wilkins and John Richardson, both of whom have gone on to distinguished research careers. His first postdoctoral fellow, Graham Hitch, joined Baddeley in a project investigating the relation between STM and LTM, a link that was becoming increasingly problematic for existing theories. Their results suggested the need to abandon the idea of a unitary STM in favor of a multicomponent system, to which they applied the already existing term working memory. The model was presented in an invited chapter in 1974 (Baddeley & Hitch, 1974) and has continued to drive the work of both Baddeley and Hitch since that time.The opportunity to work with Elizabeth Warrington at the National Hospital, Queen's Square, London, convinced ' Articulatory was changed to phonological to emphasize the fact that this subsystem is not limited to the articulatory component. The term sketchpad was ...

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Eugenics

2004

Encyclopedic Dictionary of Genetics, Genomics and Proteomics

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Progressing from Eugenics to Human Genetics

Cited by 10 publications

References 4 publications

Multifactor Dimensionality Reduction as a Filter-Based Approach for Genome Wide Association Studies

Multifactor Dimensionality Reduction as a Filter-Based Approach for Genome Wide Association Studies

2001 award winners.

Eugenics

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