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Biology subjects

Puig, P.

Publications and source records attributed to Puig, P..

2 recordsLinked to original sources

A model to analyze age-related differences in human-generated head-tail sequences

The generation of random-like sequences is a common task for assessing high-level cognitive abilities, such as inhibition, sustained attention and working memory. In general, many studies have shown a detrimental effect of aging on pseudo-random productions. The performance of participants in random generation tasks has typically been assessed by measures of randomness such as, among others, entropy and algorithmic complexity that are calculated from the series of responses produced by the subject. We focus on analyzing the mental model of randomness that people implicitly use when producing random series. We propose a novel latent class model based on Markov chains that aims to classify individuals into homogeneous classes according to the way they generate head-tail series. Our results reveal that there are significant age-related differences in the way individuals produce random-like sequences. Specifically, the group of healthy adults implicitly uses a simpler mental mechanism, in terms of memory requirements, compared to the group of younger participants. Author summaryIt is well known that, in general, people deviate from randomness as they attempt to mentally generate head-tail sequences as randomly as possible. The extensive literature on this topic has shown that human-generated head-tail series tend to have more alternations than would be expected by chance. However, it seems unrealistic to suppose that all individuals generate sequences based on the same random mental model. We conducted an experiment in which 331 individuals were asked to mentally simulate a fair coin: 69 healthy older adults with an age [≥] 60 and 262 Biology students with an age between 18 and 20. We found that the way in which random sequences are generated varies between subjects. A similar approach could be used to analyze differences in random generation tasks between subjects with different disorders and healthy subjects.

animal behavior and cognition↗

A robust estimation of mosaic loss of chromosome Y from genotype-array-intensity data to improve disease risk associations and transcriptional effects

Accurate protocols and methods to robustly detect the mosaic loss of chromosome Y (mLOY) are needed given its reported role in cancer, several age-related disorders and overall male mortality. Intensity SNP-array data have been used to infer mLOY status and to determine its prominent role in male disease. However, discrepancies of reported findings can be due to the uncertainty and variability of the methods used for mLOY detection and to the differences in the tissue-matrix used. We proposed MADloy, the first publicly available software tool that incorporates previous methods and includes a new robust approach, allowing efficient calling in large studies and comparisons between methods. The new method implemented in MADloy optimizes mLOY calling by correctly modeling the underlying reference population with no-mLOY status and incorporating B-deviation information. We observed improvements in the calling accuracy with respect to previous methods, using experimentally validated samples, and an increment in the statistical power to detect associations with disease and mortality, using simulation studies and real dataset analyses. We applied MADloy to detect the increment of mLOY cellularity in blood on 18 individuals after 3 years, and to confirm that its detection in saliva was sub-optimal (41%). We illustrate the use of MADloy to detect the down-regulation genes in the chromosome Y in kidney and bladder tumors with mLOY, and to perform pathway analyses for the detection of mLOY in blood. MADloy is a new software tool implemented in R for easy and robust calling of mLOY status in men aimed to facilitate its study in large epidemiological studies.

genomics↗