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1.
Heredity (Edinb) ; 112(6): 666-74, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24549111

RESUMEN

The advent of high-throughput sequencing technology has resulted in the ability to measure millions of single-nucleotide polymorphisms (SNPs) from thousands of individuals. Although these high-dimensional data have paved the way for better understanding of the genetic architecture of common diseases, they have also given rise to challenges in developing computational methods for learning epistatic relationships among genetic markers. We propose a new method, named cuckoo search epistasis (CSE) for identifying significant epistatic interactions in population-based association studies with a case-control design. This method combines a computationally efficient Bayesian scoring function with an evolutionary-based heuristic search algorithm, and can be efficiently applied to high-dimensional genome-wide SNP data. The experimental results from synthetic data sets show that CSE outperforms existing methods including multifactorial dimensionality reduction and Bayesian epistasis association mapping. In addition, on a real genome-wide data set related to Alzheimer's disease, CSE identified SNPs that are consistent with previously reported results, and show the utility of CSE for application to genome-wide data.


Asunto(s)
Biología Computacional/métodos , Epistasis Genética , Modelos Genéticos , Algoritmos , Teorema de Bayes , Conjuntos de Datos como Asunto , Estudio de Asociación del Genoma Completo , Humanos , Polimorfismo de Nucleótido Simple
2.
Adv Dent Res ; 17: 115-20, 2003 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15126221

RESUMEN

Successful retrieval of a corpus of literature on a broad topic can be difficult. This study demonstrates a method to retrieve the dental and craniofacial research literature. We explored MeSH manually for dental or craniofacial indexing terms. MEDLINE was searched using these terms, and a random sample of references was extracted from the resulting set. Sixteen dental research experts categorized these articles, reading only the title and abstract, as either: (1) dental research, (2) dental non-research, (3) non-dental, or (4) not sure. Identify Patient Sets (IPS), a probabilistic text classifier, created models, based on the presence or absence of words or UMLS phrases, that distinguished dental research articles from all others. These models were applied to a test set with different inputs for each article: (1) title and abstract only, (2) MeSH terms only, or (3) both. By title and abstract only, IPS correctly classified 64% of all dental research articles present in the test set. The percentage of correctly classified dental research articles in this retrieved set was 71%. MeSH term inclusion decreased performance. Computer programs that use text input to categorize articles may aid in retrieval of a broad corpus of literature better than indexing terms or key words alone.


Asunto(s)
Investigación Dental , Almacenamiento y Recuperación de la Información/métodos , Indización y Redacción de Resúmenes , Clasificación , Investigación Dental/clasificación , Humanos , MEDLINE , Publicaciones Periódicas como Asunto , Sensibilidad y Especificidad , Descriptores , Unified Medical Language System
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