Výsledky vyhledávání - "Ribeiro, Diogo M."

Efficient phasing and imputation of low-coverage sequencing data using large reference panels Autor Rubinacci, Simone, Ribeiro, Diogo M., Hofmeister, Robin J., Delaneau, Olivier

“…Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics…”
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Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank Autor Hofmeister, Robin J., Ribeiro, Diogo M., Rubinacci, Simone, Delaneau, Olivier

“…Phasing involves distinguishing the two parentally inherited copies of each chromosome into haplotypes. Here, we introduce SHAPEIT5, a new phasing method that…”
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Parent-of-Origin inference for biobanks Autor Hofmeister, Robin J., Rubinacci, Simone, Ribeiro, Diogo M., Buil, Alfonso, Kutalik, Zoltán, Delaneau, Olivier

“…Identical genetic variations can have different phenotypic effects depending on their parent of origin. Yet, studies focusing on parent-of-origin effects have…”
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Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome Autor Porcu, Eleonora, Sadler, Marie C., Lepik, Kaido, Auwerx, Chiara, Wood, Andrew R., Weihs, Antoine, Sleiman, Maroun S. Bou, Ribeiro, Diogo M., Bandinelli, Stefania, Tanaka, Toshiko, Nauck, Matthias, Völker, Uwe, Delaneau, Olivier, Metspalu, Andres, Teumer, Alexander, Frayling, Timothy, Santoni, Federico A., Reymond, Alexandre, Kutalik, Zoltán

“…Comparing transcript levels between healthy and diseased individuals allows the identification of differentially expressed genes, which may be causes,…”
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MoonDB 2.0: an updated database of extreme multifunctional and moonlighting proteins Autor Ribeiro, Diogo M, Briere, Galadriel, Bely, Benoit, Spinelli, Lionel, Brun, Christine

“…Abstract MoonDB 2.0 (http://moondb.hb.univ-amu.fr/) is a database of predicted and manually curated extreme multifunctional (EMF) and moonlighting proteins,…”
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Shared regulation and functional relevance of local gene co-expression revealed by single cell analysis Autor M. Ribeiro, Diogo, Ziyani, Chaymae, Delaneau, Olivier

“…Most human genes are co-expressed with a nearby gene. Previous studies have revealed this local gene co-expression to be widespread across chromosomes and…”
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Leveraging large-scale biobank EHRs to enhance pharmacogenetics of cardiometabolic disease medications Autor Sadler, Marie C., Apostolov, Alexander, Cevallos, Caterina, Auwerx, Chiara, Ribeiro, Diogo M., Altman, Russ B., Kutalik, Zoltán

“…Electronic health records (EHRs) coupled with large-scale biobanks offer great promises to unravel the genetic underpinnings of treatment efficacy. However,…”
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The molecular basis, genetic control and pleiotropic effects of local gene co-expression Autor Ribeiro, Diogo M., Rubinacci, Simone, Ramisch, Anna, Hofmeister, Robin J., Dermitzakis, Emmanouil T., Delaneau, Olivier

“…Nearby genes are often expressed as a group. Yet, the prevalence, molecular mechanisms and genetic control of local gene co-expression are far from being…”
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Multimodal single cell analysis infers widespread enhancer co-activity in a lymphoblastoid cell line Autor Ziyani, Chaymae, Delaneau, Olivier, Ribeiro, Diogo M.

“…Non-coding regulatory elements such as enhancers are key in controlling the cell-type specificity and spatio-temporal expression of genes. To drive stable and…”
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Correction: MiR-277/4989 regulate transcriptional landscape during juvenile to adult transition in the parasitic helminth Schistosoma mansoni Autor Protasio, Anna V., Dongen, Stijn van, Collins, Julie, Quintais, Leonor, Ribeiro, Diogo M., Sessler, Florian, Hunt, Martin, Rinaldi, Gabriel, Collins, James J., Enright, Anton J., Berriman, Matthew

“…[This corrects the article DOI: 10.1371/journal.pntd.0005559.]…”
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MiR-277/4989 regulate transcriptional landscape during juvenile to adult transition in the parasitic helminth Schistosoma mansoni Autor Protasio, Anna V., van Dongen, Stijn, Collins, Julie, Quintais, Leonor, Ribeiro, Diogo M., Sessler, Florian, Hunt, Martin, Rinaldi, Gabriel, Collins, James J., Enright, Anton J., Berriman, Matthew

“…Schistosomes are parasitic helminths that cause schistosomiasis, a disease affecting circa 200 million people, primarily in underprivileged regions of the…”
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Genetic variation in cis-regulatory domains suggests cell type-specific regulatory mechanisms in immunity Autor Avalos, Diana, Rey, Guillaume, Ribeiro, Diogo M., Ramisch, Anna, Dermitzakis, Emmanouil T., Delaneau, Olivier

“…Studying the interplay between genetic variation, epigenetic changes, and regulation of gene expression is crucial to understand the modification of cellular…”
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Noncoding rare variant associations with blood traits in 166,740 UK Biobank genomes Autor Ribeiro, Diogo M, Hofmeister, Robin J, Rubinacci, Simone, Delaneau, Olivier

“…Large biobanks with whole-genome sequencing (WGS) now enable the association of noncoding rare variants with complex human traits. Given that >98% of the…”
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Understanding protein multifunctionality: from short linear motifs to cellular functions Autor Zanzoni, Andreas, Ribeiro, Diogo M., Brun, Christine

“…Moonlighting proteins perform multiple unrelated functions without any change in polypeptide sequence. They can coordinate cellular activities, serving as…”
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Protein complex scaffolding predicted as a prevalent function of long non-coding RNAs Autor Ribeiro, Diogo M, Zanzoni, Andreas, Cipriano, Andrea, Delli Ponti, Riccardo, Spinelli, Lionel, Ballarino, Monica, Bozzoni, Irene, Tartaglia, Gian Gaetano, Brun, Christine

“…Abstract The human transcriptome contains thousands of long non-coding RNAs (lncRNAs). Characterizing their function is a current challenge. An emerging…”
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Publisher Correction: Efficient phasing and imputation of low-coverage sequencing data using large reference panels Autor Rubinacci, Simone, Ribeiro, Diogo M., Hofmeister, Robin J., Delaneau, Olivier

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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Post-transcriptional regulatory patterns revealed by protein-RNA interactions Autor Zanzoni, Andreas, Spinelli, Lionel, Ribeiro, Diogo M., Tartaglia, Gian Gaetano, Brun, Christine

“…The coordination of the synthesis of functionally-related proteins can be achieved at the post-transcriptional level by the action of common regulatory…”
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The genomic basis of parasitism in the Strongyloides clade of nematodes Autor Hunt, Vicky L, Tsai, Isheng J, Coghlan, Avril, Reid, Adam J, Holroyd, Nancy, Foth, Bernardo J, Tracey, Alan, Cotton, James A, Stanley, Eleanor J, Beasley, Helen, Bennett, Hayley M, Brooks, Karen, Harsha, Bhavana, Kajitani, Rei, Kulkarni, Arpita, Harbecke, Dorothee, Nagayasu, Eiji, Nichol, Sarah, Ogura, Yoshitoshi, Quail, Michael A, Randle, Nadine, Xia, Dong, Brattig, Norbert W, Soblik, Hanns, Ribeiro, Diogo M, Sanchez-Flores, Alejandro, Hayashi, Tetsuya, Itoh, Takehiko, Denver, Dee R, Grant, Warwick, Stoltzfus, Jonathan D, Lok, James B, Murayama, Haruhiko, Wastling, Jonathan, Streit, Adrian, Kikuchi, Taisei, Viney, Mark, Berriman, Matthew

“…Taisei Kikuchi, Mark Viney, Matthew Berriman and colleagues report the genome sequences of six species of nematodes from the Strongyloides clade of nematodes,…”
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The role of 3′UTR-protein complexes in the regulation of protein multifunctionality and subcellular localization Autor Ribeiro, Diogo M, Prod’homme, Alexis, Teixeira, Adrien, Zanzoni, Andreas, Brun, Christine

“…Abstract Multifunctional proteins often perform their different functions when localized in different subcellular compartments. However, the mechanisms leading…”
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Imidazolium ionic liquids as solvents of pharmaceuticals: Influence on HSA binding and partition coefficient of nimesulide Autor Azevedo, Ana M.O., Ribeiro, Diogo M.G., Pinto, Paula C.A.G., Lúcio, Marlene, Reis, Salette, Saraiva, M. Lúcia M.F.S.

“…In this work, the influence of imidazolium ionic liquids (ILs) on bio-chemical parameters that influence the in vivo behavior of nimesulide was evaluated. In…”
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