Statistical Distributions
Models, Statistical
Algorithms
Statistics as Topic
Computer Simulation
Models, Genetic
Proteins
Models, Biological
The significance of non-significance. (1/292)
We discuss the implications of empirical results that are statistically non-significant. Figures illustrate the interrelations among effect size, sample sizes and their dispersion, and the power of the experiment. All calculations (detailed in Appendix) are based on actual noncentral t-distributions, with no simplifying mathematical or statistical assumptions, and the contribution of each tail is determined separately. We emphasize the importance of reporting, wherever possible, the a priori power of a study so that the reader can see what the chances were of rejecting a null hypothesis that was false. As a practical alternative, we propose that non-significant inference be qualified by an estimate of the sample size that would be required in a subsequent experiment in order to attain an acceptable level of power under the assumption that the observed effect size in the sample is the same as the true effect size in the population; appropriate plots are provided for a power of 0.8. We also point out that successive outcomes of independent experiments each of which may not be statistically significant on its own, can be easily combined to give an overall p value that often turns out to be significant. And finally, in the event that the p value is high and the power sufficient, a non-significant result may stand and be published as such. (+info)The comparison of mixed distribution analysis with a three-criteria model as a method for estimating the prevalence of iron deficiency anaemia in Costa Rican children aged 12-23 months. (2/292)
BACKGROUND: A maximum likelihood method of mixed distribution analysis (MDA) is presented as a method to estimate the prevalence of iron deficiency anaemia (IDA) in Costa Rican infants 12-23 months old. MDA characterizes the parameters of the admixed distributions of iron deficient anaemics and non-iron-deficient-anaemics (NA) from the frequency distribution of haemoglobin concentration of the total sample population. METHODS: Data collected by Lozoff et al. (1986) from 345 Costa Rican infants 12-23 months old were used to estimate the parameters of the IDA and NA haemoglobin distributions determined by MDA and the widely used three-criteria model of iron deficiency. The estimates of the prevalence of IDA by each of the methods were compared. The sensitivity and specificity of MDA compared to diagnosis by the three-criteria method were assessed. Simulations were carried out to assess the comparability of MDA and the three-criteria method in low and high prevalence scenarios. RESULTS: The mean and standard deviation (SD) of the NA haemoglobin distribution determined by both methods was 12.1 +/- 1.0 g/dL. The IDA haemoglobin distribution determined by MDA had a mean and SD of 10.2 +/- 1.3 g/dL while the IDA distribution by the three-criteria method had a mean and SD of 10.4 +/- 1.3 g/dL. The prevalences of IDA as estimated by MDA and the three-criteria method were 24% and 29%, respectively. The sensitivity and specificity of MDA were 95% and 97%, respectively. The performance of MDA was similar to the three-criteria method at a simulated high prevalence of IDA and less similar at a low prevalence of IDA. CONCLUSIONS: Compared to the reference three-criteria method MDA provides a more accurate estimate of the true prevalence of IDA than the haemoglobin cutoff method in a population of children aged 12-23 months with a moderate to high prevalence of IDA. MDA is a less costly method for estimating the severity of IDA in populations with moderate to high prevalences of IDA, and for assisting in the design, monitoring and evaluation of iron intervention programmes. (+info)A genomic screen of autism: evidence for a multilocus etiology. (3/292)
We have conducted a genome screen of autism, by linkage analysis in an initial set of 90 multiplex sibships, with parents, containing 97 independent affected sib pairs (ASPs), with follow-up in 49 additional multiplex sibships, containing 50 ASPs. In total, 519 markers were genotyped, including 362 for the initial screen, and an additional 157 were genotyped in the follow-up. As a control, we also included in the analysis unaffected sibs, which provided 51 discordant sib pairs (DSPs) for the initial screen and 29 for the follow-up. In the initial phase of the work, we observed increased identity by descent (IBD) in the ASPs (sharing of 51.6%) compared with the DSPs (sharing of 50.8%). The excess sharing in the ASPs could not be attributed to the effect of a small number of loci but, rather, was due to the modest increase in the entire distribution of IBD. These results are most compatible with a model specifying a large number of loci (perhaps >/=15) and are less compatible with models specifying +info)Testing the robustness of the likelihood-ratio test in a variance-component quantitative-trait loci-mapping procedure. (4/292)
Detection of linkage to genes for quantitative traits remains a challenging task. Recently, variance components (VC) techniques have emerged as among the more powerful of available methods. As often implemented, such techniques require assumptions about the phenotypic distribution. Usually, multivariate normality is assumed. However, several factors may lead to markedly nonnormal phenotypic data, including (a) the presence of a major gene (not necessarily linked to the markers under study), (b) some types of gene x environment interaction, (c) use of a dichotomous phenotype (i.e., affected vs. unaffected), (d) nonnormality of the population within-genotype (residual) distribution, and (e) selective (extreme) sampling. Using simulation, we have investigated, for sib-pair studies, the robustness of the likelihood-ratio test for a VC quantitative-trait locus-detection procedure to violations of normality that are due to these factors. Results showed (a) that some types of nonnormality, such as leptokurtosis, produced type I error rates in excess of the nominal, or alpha, levels whereas others did not; and (b) that the degree of type I error-rate inflation appears to be directly related to the residual sibling correlation. Potential solutions to this problem are discussed. Investigators contemplating use of this VC procedure are encouraged to provide evidence that their trait data are normally distributed, to employ a procedure that allows for nonnormal data, or to consider implementation of permutation tests. (+info)Point and interval estimates of marker location in radiation hybrid mapping. (5/292)
Radiation hybrid (RH) mapping is a powerful method for ordering loci on chromosomes and for estimating the distances between them. RH mapping is currently used to construct both framework maps, in which all markers are ordered with high confidence (e.g., 1,000:1 relative maximum likelihood), and comprehensive maps, which include markers with less-confident placement. To deal with uncertainty in the order and location of markers, marker positions may be estimated conditional on the most likely marker order, plausible intervals for nonframework markers may be indicated on a framework map, or bins of markers may be constructed. We propose a statistical method for estimating marker position that combines information from all plausible marker orders, gives a measure of uncertainty in location for each marker, and provides an alternative to the current practice of binning. Assuming that the prior distribution for the retention probabilities is uniform and that the marker loci are distributed independently and uniformly on an interval of specified length, we calculate the posterior distribution of marker position for each marker. The median or mean of this distribution provides a point estimate of marker location. An interval estimate of marker location may be constructed either by using the 100(alpha/2) and 100(1-alpha)/2 percentiles of the distribution to form a 100(1-alpha) % posterior credible interval or by calculating the shortest 100(1-alpha) % posterior credible interval. These point and interval estimates take into account ordering uncertainty and do not depend on the assumption of a particular marker order. We evaluate the performance of the estimates on the basis of results from simulated data and illustrate the method with two examples. (+info)Heritability of cellular radiosensitivity: a marker of low-penetrance predisposition genes in breast cancer? (6/292)
Many inherited cancer-prone conditions show an elevated sensitivity to the induction of chromosome damage in cells exposed to ionizing radiation, indicative of defects in the processing of DNA damage. We earlier found that 40% of patients with breast cancer and 5%-10% of controls showed evidence of enhanced chromosomal radiosensitivity and that this sensitivity was not age related. We suggested that this could be a marker of cancer-predisposing genes of low penetrance. To further test this hypothesis, we have studied the heritability of radiosensitivity in families of patients with breast cancer. Of 37 first-degree relatives of 16 sensitive patients, 23 (62%) were themselves sensitive, compared with 1 (7%) of 15 first-degree relatives of four patients with normal responses. The distribution of radiosensitivities among the family members showed a trimodal distribution, suggesting the presence of a limited number of major genes determining radiosensitivity. Segregation analysis of 95 family members showed clear evidence of heritability of radiosensitivity, with a single major gene accounting for 82% of the variance between family members. The two alleles combine in an additive (codominant) manner, giving complete heterozygote expression. A better fit was obtained to a model that includes a second, rarer gene with a similar, additive effect on radiosensitivity, but the data are clearly consistent with a range of models. Novel genes involved in predisposition to breast cancer can now be sought through linkage studies using this quantitative trait. (+info)Replication of linkage studies of complex traits: an examination of variation in location estimates. (7/292)
In linkage studies, independent replication of positive findings is crucial in order to distinguish between true positives and false positives. Recently, the following question has arisen in linkage studies of complex traits: at what distance do we reject the hypothesis that two location estimates in a genomic region represent the same gene? Here we attempt to address this question. Sampling distributions for location estimates were constructed by computer simulation. The conditions for simulation were chosen to reflect features of "typical" complex traits, including incomplete penetrance, phenocopies, and genetic heterogeneity. Our findings, which bear on what is considered a replication in linkage studies of complex traits, suggest that, even with relatively large numbers of multiplex families, chance variation in the location estimate is substantial. In addition, we report evidence that, for the conditions studied here, the standard error of a location estimate is a function of the magnitude of the expected LOD score. (+info)Intron-exon structures of eukaryotic model organisms. (8/292)
To investigate the distribution of intron-exon structures of eukaryotic genes, we have constructed a general exon database comprising all available intron-containing genes and exon databases from 10 eukaryotic model organisms: Homo sapiens, Mus musculus, Gallus gallus, Rattus norvegicus, Arabidopsis thaliana, Zea mays, Schizosaccharomyces pombe, Aspergillus, Caenorhabditis elegans and Drosophila. We purged redundant genes to avoid the possible bias brought about by redundancy in the databases. After discarding those questionable introns that do not contain correct splice sites, the final database contained 17 102 introns, 21 019 exons and 2903 independent or quasi-independent genes. On average, a eukaryotic gene contains 3.7 introns per kb protein coding region. The exon distribution peaks around 30-40 residues and most introns are 40-125 nt long. The variable intron-exon structures of the 10 model organisms reveal two interesting statistical phenomena, which cast light on some previous speculations. (i) Genome size seems to be correlated with total intron length per gene. For example, invertebrate introns are smaller than those of human genes, while yeast introns are shorter than invertebrate introns. However, this correlation is weak, suggesting that other factors besides genome size may also affect intron size. (ii) Introns smaller than 50 nt are significantly less frequent than longer introns, possibly resulting from a minimum intron size requirement for intron splicing. (+info)In medical statistics, a statistical distribution refers to the pattern of frequency or proportion of certain variables in a population. It describes how the data points in a sample are distributed and can be used to make inferences about a larger population. There are various types of statistical distributions, including normal (or Gaussian) distribution, binomial distribution, Poisson distribution, and exponential distribution, among others. These distributions have specific mathematical properties that allow researchers to calculate probabilities and make predictions based on the data. For example, a normal distribution is characterized by its mean and standard deviation, while a Poisson distribution models the number of events occurring within a fixed interval of time or space. Understanding statistical distributions is crucial for interpreting medical research findings and making informed decisions in healthcare.
Statistical models are mathematical representations that describe the relationship between variables in a given dataset. They are used to analyze and interpret data in order to make predictions or test hypotheses about a population. In the context of medicine, statistical models can be used for various purposes such as:
1. Disease risk prediction: By analyzing demographic, clinical, and genetic data using statistical models, researchers can identify factors that contribute to an individual's risk of developing certain diseases. This information can then be used to develop personalized prevention strategies or early detection methods.
2. Clinical trial design and analysis: Statistical models are essential tools for designing and analyzing clinical trials. They help determine sample size, allocate participants to treatment groups, and assess the effectiveness and safety of interventions.
3. Epidemiological studies: Researchers use statistical models to investigate the distribution and determinants of health-related events in populations. This includes studying patterns of disease transmission, evaluating public health interventions, and estimating the burden of diseases.
4. Health services research: Statistical models are employed to analyze healthcare utilization, costs, and outcomes. This helps inform decisions about resource allocation, policy development, and quality improvement initiatives.
5. Biostatistics and bioinformatics: In these fields, statistical models are used to analyze large-scale molecular data (e.g., genomics, proteomics) to understand biological processes and identify potential therapeutic targets.
In summary, statistical models in medicine provide a framework for understanding complex relationships between variables and making informed decisions based on data-driven insights.
An algorithm is not a medical term, but rather a concept from computer science and mathematics. In the context of medicine, algorithms are often used to describe step-by-step procedures for diagnosing or managing medical conditions. These procedures typically involve a series of rules or decision points that help healthcare professionals make informed decisions about patient care.
For example, an algorithm for diagnosing a particular type of heart disease might involve taking a patient's medical history, performing a physical exam, ordering certain diagnostic tests, and interpreting the results in a specific way. By following this algorithm, healthcare professionals can ensure that they are using a consistent and evidence-based approach to making a diagnosis.
Algorithms can also be used to guide treatment decisions. For instance, an algorithm for managing diabetes might involve setting target blood sugar levels, recommending certain medications or lifestyle changes based on the patient's individual needs, and monitoring the patient's response to treatment over time.
Overall, algorithms are valuable tools in medicine because they help standardize clinical decision-making and ensure that patients receive high-quality care based on the latest scientific evidence.
Statistics, as a topic in the context of medicine and healthcare, refers to the scientific discipline that involves the collection, analysis, interpretation, and presentation of numerical data or quantifiable data in a meaningful and organized manner. It employs mathematical theories and models to draw conclusions, make predictions, and support evidence-based decision-making in various areas of medical research and practice.
Some key concepts and methods in medical statistics include:
1. Descriptive Statistics: Summarizing and visualizing data through measures of central tendency (mean, median, mode) and dispersion (range, variance, standard deviation).
2. Inferential Statistics: Drawing conclusions about a population based on a sample using hypothesis testing, confidence intervals, and statistical modeling.
3. Probability Theory: Quantifying the likelihood of events or outcomes in medical scenarios, such as diagnostic tests' sensitivity and specificity.
4. Study Designs: Planning and implementing various research study designs, including randomized controlled trials (RCTs), cohort studies, case-control studies, and cross-sectional surveys.
5. Sampling Methods: Selecting a representative sample from a population to ensure the validity and generalizability of research findings.
6. Multivariate Analysis: Examining the relationships between multiple variables simultaneously using techniques like regression analysis, factor analysis, or cluster analysis.
7. Survival Analysis: Analyzing time-to-event data, such as survival rates in clinical trials or disease progression.
8. Meta-Analysis: Systematically synthesizing and summarizing the results of multiple studies to provide a comprehensive understanding of a research question.
9. Biostatistics: A subfield of statistics that focuses on applying statistical methods to biological data, including medical research.
10. Epidemiology: The study of disease patterns in populations, which often relies on statistical methods for data analysis and interpretation.
Medical statistics is essential for evidence-based medicine, clinical decision-making, public health policy, and healthcare management. It helps researchers and practitioners evaluate the effectiveness and safety of medical interventions, assess risk factors and outcomes associated with diseases or treatments, and monitor trends in population health.
A computer simulation is a process that involves creating a model of a real-world system or phenomenon on a computer and then using that model to run experiments and make predictions about how the system will behave under different conditions. In the medical field, computer simulations are used for a variety of purposes, including:
1. Training and education: Computer simulations can be used to create realistic virtual environments where medical students and professionals can practice their skills and learn new procedures without risk to actual patients. For example, surgeons may use simulation software to practice complex surgical techniques before performing them on real patients.
2. Research and development: Computer simulations can help medical researchers study the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone. By creating detailed models of cells, tissues, organs, or even entire organisms, researchers can use simulation software to explore how these systems function and how they respond to different stimuli.
3. Drug discovery and development: Computer simulations are an essential tool in modern drug discovery and development. By modeling the behavior of drugs at a molecular level, researchers can predict how they will interact with their targets in the body and identify potential side effects or toxicities. This information can help guide the design of new drugs and reduce the need for expensive and time-consuming clinical trials.
4. Personalized medicine: Computer simulations can be used to create personalized models of individual patients based on their unique genetic, physiological, and environmental characteristics. These models can then be used to predict how a patient will respond to different treatments and identify the most effective therapy for their specific condition.
Overall, computer simulations are a powerful tool in modern medicine, enabling researchers and clinicians to study complex systems and make predictions about how they will behave under a wide range of conditions. By providing insights into the behavior of biological systems at a level of detail that would be difficult or impossible to achieve through experimental methods alone, computer simulations are helping to advance our understanding of human health and disease.
Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.
There are several types of genetic models, including:
1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.
Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.
Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.
Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.
Examples of biological models include:
1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.
Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.