Markovian language model of the DNA and its information content.
Ontology highlight
ABSTRACT:
SUBMITTER: Srivastava S
PROVIDER: S-EPMC4736934 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundApproximately one-third of Japanese couples currently worry or previously worried about infertility. To develop strategies for the primary prevention of infertility as a population approach, it is important for the general population to be knowledgeable about fertility and infertility. The internet may contribute to the dissemination of information regarding infertility and fertility. However, few studies have examined online information about fertility.ObjectiveThis study aimed to quantitatively examine online Japanese-language information about lifestyle factors associated with reduced fertility.MethodsWe conducted online searches, using the 10 search terms with the highest numbers of searches that people hoping to conceive are likely to input in two major search engines in Japan (Google Japan and Yahoo! Japan). From the 2200 retrieved websites, 1181 duplicates and 500 websites unrelated to our objective were excluded, resulting in a final dataset of 519 websites. Coding guidelines were developed for the following lifestyle factors associated with reduced fertility: sexually transmitted diseases, psychological stress, cigarette smoking, alcohol use, nutrition and diet, physical activity and exercise, underweight, overweight and obesity, and environmental pollutants.ResultsIn terms of the website author's professional expertise, 69.6 % of the coding instances for the selected lifestyle factors were mentioned by hospitals, clinics, or the media, whereas only 1.7% were mentioned by laypersons. Psychological stress (20.1%) and sexually transmitted diseases (18.8%) were the most frequently mentioned lifestyle factors associated with reduced fertility. In contrast, cigarette smoking, alcohol use, nutrition and diet, physical activity and exercise, underweight, overweight and obesity, and environmental pollutants were mentioned relatively infrequently. The association between reduced fertility and sexually transmitted diseases was mentioned significantly more frequently by hospitals and clinics than by the media (P<.001). The association between reduced fertility and nutrition and diet was mentioned significantly more frequently by the media than by hospitals and clinics (P=.008). With regard to the sex of the target audience for the information, female-specific references to psychological stress, sexually transmitted diseases, nutrition and diet, underweight, physical activity and exercise, and overweight and obesity were significantly more frequent than were male-specific references to these lifestyle factors (psychological stress: P=.002, sexually transmitted diseases: P<.001, nutrition and diet: P<.001, underweight: P<.001, physical activity and exercise: P<.001, overweight and obesity: P<.001).ConclusionsOf the lifestyle factors known to be related to reduced fertility, cigarette smoking, alcohol use, and male-specific lifestyle factors are mentioned relatively infrequently in online information sources in Japan, and these factors should be discussed more in information published on websites.
| S-EPMC7479583 | biostudies-literature
Project description:Interactions between transcription factors and chromatin are fundamental to genome organization and regulation and, ultimately, cell state. Here, we use information theory to measure signatures of organized chromatin resulting from transcription factor-chromatin interactions encoded in the patterns of the accessible genome, which we term chromatin information enrichment (CIE). We calculate CIE for hundreds of transcription factor motifs across human samples and identify two classes: low and high CIE. The 10-20% of common and tissue-specific high CIE transcription factor motifs, associate with higher protein-DNA residence time, including different binding site subclasses of the same transcription factor, increased nucleosome phasing, specific protein domains, and the genetic control of both chromatin accessibility and gene expression. These results show that variations in the information encoded in chromatin architecture reflect functional biological variation, with implications for cell state dynamics and memory.
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Project description:Protein language models have been tested and proved to be reliable when used on curated datasets but have not yet been applied to full proteomes. Accordingly, we tested how two different machine learning-based methods performed when decoding functional information from the proteomes of selected model organisms. We found that protein language models are more precise and informative than deep learning methods for all the species tested and across the three gene ontologies studied, and that they better recover functional information from transcriptomic experiments. The results obtained indicate that these language models are likely to be suitable for large-scale annotation and downstream analyses, and we recommend a guide for their use.
| S-EPMC11217674 | biostudies-literature
Project description:On the basis of the observation that conserved positions in transcription factor binding sites are often clustered together, we propose a simple extension to the model-based motif discovery methods. We assign position-specific prior distributions to the frequency parameters of the model, penalizing deviations from a specified conservation profile. Examples with both simulated and real data show that this extension helps discover motifs as the data become noisier or when there is a competing false motif.
| S-EPMC463320 | biostudies-literature
Project description:Enhancers and silencers often depend on the same transcription factors (TFs) and are imperfectly distinguished from each other by genomic assays of TF binding or chromatin state. To identify sequence features that define enhancers and silencers, we assayed massively parallel reporter libraries of genomic sequences targeted by the photoreceptor TF CRX and found instances of enhancer, silencer, or no activity. Both enhancers and silencers contain more TF motifs than inactive sequences, but enhancers contain motifs from a more diverse collection of TFs. We developed a measure of information content that describes the number and diversity of motifs in a sequence and found that, while both enhancers and silencers depend on CRX motifs, enhancers have higher information content. Our results indicate that enhancers contain motifs for a diverse but degenerate collection of TFs, while silencers depend on a smaller and less diverse collection of TFs.
2021-01-30 | GSE165812 | GEO
Project description:The utility of various regions of the ribosomal repeat unit for phylogenetic analysis was examined in 16 species representing four families, nine genera, and two orders of the subclass Copepoda (Crustacea). Fragments approximately 2000 bp in length containing the ribosomal DNA (rDNA) 18S and 28S gene fragments, the 5.8S gene, and the internal transcribed spacer regions I and II (ITS1 and ITS2) were amplified and analyzed. The DAMBE (Data Analysis in Molecular Biology and Evolution) software was used to analyze the saturation of nucleotide substitutions; this test revealed the suitability of both the 28S gene fragment and the ITS1/ITS2 rDNA regions for the reconstruction of phylogenetic trees. Distance (minimum evolution) and probabilistic (maximum likelihood, Bayesian) analyses of the data revealed that the 28S rDNA and the ITS1 and ITS2 regions are informative markers for inferring phylogenetic relationships among families of copepods and within the Cyclopidae family and associated genera. Split-graph analysis of concatenated ITS1/ITS2 rDNA regions of cyclopoid copepods suggested that the Mesocyclops, Thermocyclops, and Macrocyclops genera share complex evolutionary relationships. This study revealed that the ITS1 and ITS2 regions potentially represent different phylogenetic signals.
| S-EPMC4151598 | biostudies-literature
Project description:Recent studies have examined the risk of poverty throughout the life course, but few have considered how transitioning in and out of poverty shape the dynamic heterogeneity and mortality disparities of a cohort at each age. Here we use state-by-age modeling to capture individual heterogeneity in crossing one of three different poverty thresholds (defined as 1×, 2× or 3× the "official" poverty threshold) at each age. We examine age-specific state structure, the remaining life expectancy, its variance, and cohort simulations for those above and below each threshold. Survival and transitioning probabilities are statistically estimated by regression analyses of data from the Health and Retirement Survey RAND data-set, and the National Longitudinal Survey of Youth. Using the results of these regression analyses, we parameterize discrete state, discrete age matrix models. We found that individuals above all three thresholds have higher annual survival than those in poverty, especially for mid-ages to about age 80. The advantage is greatest when we classify individuals based on 1× the "official" poverty threshold. The greatest discrepancy in average remaining life expectancy and its variance between those above and in poverty occurs at mid-ages for all three thresholds. And fewer individuals are in poverty between ages 40-60 for all three thresholds. Our findings are consistent with results based on other data sets, but also suggest that dynamic heterogeneity in poverty and the transience of the poverty state is associated with income-related mortality disparities (less transience, especially of those above poverty, more disparities). This paper applies the approach of age-by-stage matrix models to human demography and individual poverty dynamics. In so doing we extend the literature on individual poverty dynamics across the life course.
| S-EPMC5955488 | biostudies-literature
Project description:Over the years, there have been claims that evolution proceeds according to systematically different processes over different timescales and that protein evolution behaves in a non-Markovian manner. On the other hand, Markov models are fundamental to many applications in evolutionary studies. Apparent non-Markovian or time-dependent behavior has been attributed to influence of the genetic code at short timescales and dominance of physicochemical properties of the amino acids at long timescales. However, any long time period is simply the accumulation of many short time periods, and it remains unclear why evolution should appear to act systematically differently across the range of timescales studied. We show that the observed time-dependent behavior can be explained qualitatively by modeling protein sequence evolution as an aggregated Markov process (AMP): a time-homogeneous Markovian substitution model observed only at the level of the amino acids encoded by the protein-coding DNA sequence. The study of AMPs sheds new light on the relationship between amino acid-level and codon-level models of sequence evolution, and our results suggest that protein evolution should be modeled at the codon level rather than using amino acid substitution models.
| S-EPMC3157587 | biostudies-literature
Project description:IntroductionRadiological imaging is one of the most frequently performed diagnostic tests worldwide. The free-text contained in radiology reports is currently only rarely used for secondary use purposes, including research and predictive analysis. However, this data might be made available by means of information extraction (IE), based on natural language processing (NLP). Recently, a new approach to NLP, large language models (LLMs), has gained momentum and continues to improve performance of IE-related tasks. The objective of this scoping review is to show the state of research regarding IE from free-text radiology reports based on LLMs, to investigate applied methods and to guide future research by showing open challenges and limitations of current approaches. To our knowledge, no systematic or scoping review of IE from radiology reports based on LLMs has been published. Existing publications are outdated and do not comprise LLM-based methods.Methods and analysisThis protocol is designed based on the JBI Manual for Evidence Synthesis, chapter 11.2: 'Development of a scoping review protocol'. Inclusion criteria and a search strategy comprising four databases (PubMed, IEEE Xplore, Web of Science Core Collection and ACM Digital Library) are defined. Furthermore, we describe the screening process, data charting, analysis and presentation of extracted data.Ethics and disseminationThis protocol describes the methodology of a scoping literature review and does not comprise research on or with humans, animals or their data. Therefore, no ethical approval is required. After the publication of this protocol and the conduct of the review, its results are going to be published in an open access journal dedicated to biomedical informatics/digital health.
| S-EPMC10729196 | biostudies-literature
Project description:Measuring the phylogenetic information content of data has a long history in systematics. Here we explore a Bayesian approach to information content estimation. The entropy of the posterior distribution compared with the entropy of the prior distribution provides a natural way to measure information content. If the data have no information relevant to ranking tree topologies beyond the information supplied by the prior, the posterior and prior will be identical. Information in data discourages consideration of some hypotheses allowed by the prior, resulting in a posterior distribution that is more concentrated (has lower entropy) than the prior. We focus on measuring information about tree topology using marginal posterior distributions of tree topologies. We show that both the accuracy and the computational efficiency of topological information content estimation improve with use of the conditional clade distribution, which also allows topological information content to be partitioned by clade. We explore two important applications of our method: providing a compelling definition of saturation and detecting conflict among data partitions that can negatively affect analyses of concatenated data. [Bayesian; concatenation; conditional clade distribution; entropy; information; phylogenetics; saturation.].
| S-EPMC5066063 | biostudies-literature