Search Results - "Paolo Casale, Francesco"
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1
DNA methylation in Arabidopsis has a genetic basis and shows evidence of local adaptation
Published in eLife (05-05-2015)“…Epigenome modulation potentially provides a mechanism for organisms to adapt, within and between generations. However, neither the extent to which this occurs,…”
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2
A linear mixed-model approach to study multivariate gene–environment interactions
Published in Nature genetics (01-01-2019)“…Different exposures, including diet, physical activity, or external conditions can contribute to genotype–environment interactions (G×E). Although…”
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3
Joint genetic analysis using variant sets reveals polygenic gene-context interactions
Published in PLoS genetics (20-04-2017)“…Joint genetic models for multiple traits have helped to enhance association analyses. Most existing multi-trait models have been designed to increase power for…”
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4
Genetic Variation in the Social Environment Contributes to Health and Disease
Published in PLoS genetics (01-01-2017)“…Assessing the impact of the social environment on health and disease is challenging. As social effects are in part determined by the genetic makeup of social…”
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5
The germline genetic component of drug sensitivity in cancer cell lines
Published in Nature communications (23-08-2018)“…Patients with seemingly the same tumour can respond very differently to treatment. There are strong, well-established effects of somatic mutations on drug…”
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6
Dissecting indirect genetic effects from peers in laboratory mice
Published in Genome Biology (26-07-2021)“…The phenotype of an individual can be affected not only by the individual's own genotypes, known as direct genetic effects (DGE), but also by genotypes of…”
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Population-scale proteome variation in human induced pluripotent stem cells
Published in eLife (10-08-2020)“…Human disease phenotypes are driven primarily by alterations in protein expression and/or function. To date, relatively little is known about the variability…”
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Single-cell states in the estrogen response of breast cancer cell lines
Published in PloS one (25-02-2014)“…Estrogen responsive breast cancer cell lines have been extensively studied to characterize transcriptional patterns in hormone-responsive tumors. Nevertheless,…”
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Efficient set tests for the genetic analysis of correlated traits
Published in Nature methods (01-08-2015)“…The multi-trait set test (mtSet) is an efficient mixed-model method that enables genome-wide association tests for large cohorts and multiple quantitative…”
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10
Genetics-driven risk predictions leveraging the Mendelian randomization framework
Published in Genome research (01-09-2024)“…Accurate predictive models of future disease onset are crucial for effective preventive healthcare, yet longitudinal data sets linking early risk factors to…”
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11
Common genetic variation drives molecular heterogeneity in human iPSCs
Published in Nature (London) (15-06-2017)“…Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous potential to provide improved cellular models of human disease. However,…”
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12
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells
Published in Cell (17-11-2016)“…Characterizing the multifaceted contribution of genetic and epigenetic factors to disease phenotypes is a major challenge in human genetics and medicine. We…”
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13
Single-cell RNA-sequencing of differentiating iPS cells reveals dynamic genetic effects on gene expression
Published in Nature communications (10-02-2020)“…Recent developments in stem cell biology have enabled the study of cell fate decisions in early human development that are impossible to study in vivo…”
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14
An allelic-series rare-variant association test for candidate-gene discovery
Published in American journal of human genetics (03-08-2023)“…Allelic series are of candidate therapeutic interest because of the existence of a dose-response relationship between the functionality of a gene and the…”
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15
Machine learning encoding of liver biopsy images enables prediction of molecular measurements in a NASH F3/F4 fibrosis clinical cohort
Published in Journal of hepatology (01-07-2022)Get full text
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Machine learning methods for detailed characterization of TGF-beta-induced signatures in a large iPSC-derived hepatic stellate cell cohort
Published in Journal of hepatology (01-07-2022)Get full text
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Genome-wide analysis of differential transcriptional and epigenetic variability across human immune cell types
Published in Genome Biology (26-01-2017)“…A healthy immune system requires immune cells that adapt rapidly to environmental challenges. This phenotypic plasticity can be mediated by transcriptional and…”
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18
BEL: A Bag Embedding Loss for Transformer Enhances Multiple Instance Whole Slide Image Classification
Published in 2023 IEEE 20th International Symposium on Biomedical Imaging (ISBI) (18-04-2023)“…Multiple Instance Learning (MIL) has become the predominant approach for classification tasks on gigapixel histopathology whole slide images (WSIs). Within the…”
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Conference Proceeding -
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SCAS dashboard: A tool to intuitively and interactively analyze Slurm cluster usage
Published in Journal of open source software (10-05-2024)Get full text
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Cardelino: computational integration of somatic clonal substructure and single-cell transcriptomes
Published in Nature methods (01-04-2020)“…Bulk and single-cell DNA sequencing has enabled reconstructing clonal substructures of somatic tissues from frequency and cooccurrence patterns of somatic…”
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