IDENTIFICACIÓN DE FACTORES GENÉTICOS EN LA ETIOLOGÍA DE LA ESQUIZOFRENIA Identification of Genetic Factors in the Etiology of Schizophrenia
Bibliographic record
Abstract
Esquizofrenia es un trastorno mental que afecta aproximadamente 1% de la población mundial. Está caracterizada por episodios psicóticos, en los cuales los individuos presentan alucinaciones y/o delirios. A su vez, este trastorno involucra un fuerte componente de disfunción social, falta de motivación y deficiencias cognitivas profundas. Las causas de este trastorno se desconocen a ciencia cierta, aunque la evidencia acumulada indica que surge por alteraciones en el desarrollo del sistema nervioso central. Entre los factores que incrementan el riesgo a desarrollar este trastorno se encuentran varios elementos del ambiente incluyendo, infecciones y malnutrición prenatal, así como complicaciones durante el parto. Sin embargo, estudios detallados han corroborado la existencia de factores genéticos involucrados en el desarrollo de esquizofrenia y señalan a estos como los factores más importantes que parecen determinar la aparición de la enfermedad. A pesar de esto, la identificación de genes involucrados en el desarrollo de esta enfermedad ha resultado ser una de las tareas más difíciles que enfrentan la genética y la genómica. El desarrollo de técnicas modernas para el estudio del genoma humano ha permitido estudiar de forma sistemática las variaciones en la secuencia y estructura del genoma que dan lugar a esquizofrenia, permitiendo la identificación de cientos de genes, que pueden estar involucrados en el desarrollo de la enfermedad. Además, se ha sugerido que muchos de estos genes están involucrados en varias enfermedades mentales que en la actualidad se diagnostican como trastornos diferentes, pero cuyo substrato biológico pudiera ser similar. Schizophrenia is a mental disorder that affects approximately 1% of the worldwide population. It is characterized by psychotic episodes in which individuals have hallucinations or delusions. This disorder also involves a strong element of social dysfunction, lack of motivation and profound cognitive deficits. The causes of this disorder remain largely unknown, but evidence indicates that arises from changes in the development of the central nervous system. Among the identified risk factors for this disorder are several environmental events, including prenatal infections and malnutrition, and complications during childbirth. However, the most important factor seems to be genetics. Despite this, the identification of genes involved in the development of this disorder has emerged as one of the most difficult tasks facing modern genetics and genomics. The development of techniques for studying the human genome has allowed a more systematic approach to determine variations in the genome sequence and structure that area casually involved in schizophrenia. These studies suggest the participation of hundreds of genes in schizophrenia development. In addition, it has been suggested that many of these genes are involved in various mental illnesses that today are diagnosed as separate entities, but whose biological substrate may be shared.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.001 | 0.005 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.002 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".