Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Mattia Bosio"'
Autor:
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers
Externí odkaz:
https://doaj.org/article/da340b3b30af42679f99a2df69ba8241
Autor:
Laura Pérez-Cano, Luigi Boccuto, Francesco Sirci, Jose Manuel Hidalgo, Samuel Valentini, Mattia Bosio, Xavier Liogier D’Ardhuy, Cindy Skinner, Lauren Cascio, Sujata Srikanth, Kelly Jones, Caroline B. Buchanan, Steven A. Skinner, Baltazar Gomez-Mancilla, Jean-Marc Hyvelin, Emre Guney, Lynn Durham
Publikováno v:
Biomedicines, Vol 12, Iss 5, p 991 (2024)
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks the diversity of genetic, neurophysiological,
Externí odkaz:
https://doaj.org/article/99e14b1507f44f089bac317a643a73d9
Publikováno v:
Intelligent Systems with Applications, Vol 19, Iss , Pp 200251- (2023)
Deep learning techniques have become one of the main propellers for solving engineering problems effectively and efficiently. For instance, Predictive Maintenance methods have been used to improve predictions of when maintenance is needed on differen
Externí odkaz:
https://doaj.org/article/cc4a60cdb4a448828c31a0d1040ad681
Autor:
Martín Iriondo, Marta Thio, Ruth Del Río, Benjamin J Baucells, Mattia Bosio, Josep Figueras-Aloy
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0285353 (2023)
[This corrects the article DOI: 10.1371/journal.pone.0235794.].
Externí odkaz:
https://doaj.org/article/9c38a5fffb09472cad6c5bb684267a94
Autor:
Raquel García-Pérez, Jose Miguel Ramirez, Aida Ripoll-Cladellas, Ruben Chazarra-Gil, Winona Oliveros, Oleksandra Soldatkina, Mattia Bosio, Paul Joris Rognon, Salvador Capella-Gutierrez, Miquel Calvo, Ferran Reverter, Roderic Guigó, François Aguet, Pedro G. Ferreira, Kristin G. Ardlie, Marta Melé
Publikováno v:
Cell Genomics, Vol 3, Iss 1, Pp 100244- (2023)
Summary: Understanding the consequences of individual transcriptome variation is fundamental to deciphering human biology and disease. We implement a statistical framework to quantify the contributions of 21 individual traits as drivers of gene expre
Externí odkaz:
https://doaj.org/article/d4d8673d5dce46658f913ea2f6071d9a
Autor:
Friederike Ehrhart, Annika Jacobsen, Maria Rigau, Mattia Bosio, Rajaram Kaliyaperumal, Jeroen F. J. Laros, Egon L. Willighagen, Alfonso Valencia, Marco Roos, Salvador Capella-Gutierrez, Leopold M. G. Curfs, Chris T. Evelo
Publikováno v:
Scientific Data, Vol 8, Iss 1, Pp 1-12 (2021)
Measurement(s) Rett syndrome • phenotype • MECP2 Gene Technology Type(s) digital curation • network analysis Sample Characteristic - Organism Homo sapiens Machine-accessible metadata file describing the reported data: https://doi.org/10.6084/m9
Externí odkaz:
https://doaj.org/article/f28a264039884f95805584f78054c327
Publikováno v:
Anales de Pediatría, Vol 93, Iss 1, Pp 24-33 (2020)
Resumen: Introducción: La prematuridad extrema se asocia a altas tasas de mortalidad. Para profesionales y familias, es prioritario establecer de forma individualizada las probabilidades de muerte en diferentes momentos. El objetivo de este estudio
Externí odkaz:
https://doaj.org/article/0e014229599d4674afcf41760385f41f
Publikováno v:
Anales de Pediatría (English Edition), Vol 93, Iss 1, Pp 24-33 (2020)
Introduction: Extreme prematurity is associated with high mortality rates. The probability of death at different points in time is a priority for professionals and parents, and needs to be established on an individual basis. The aim of this study is
Externí odkaz:
https://doaj.org/article/2b3e4935612d43e1872f675d184da5a6
Autor:
Hana Susak, Laura Serra-Saurina, German Demidov, Raquel Rabionet, Laura Domènech, Mattia Bosio, Francesc Muyas, Xavier Estivill, Geòrgia Escaramís, Stephan Ossowski
Publikováno v:
PLoS Computational Biology, Vol 17, Iss 2, p e1007784 (2021)
Rare variants are thought to play an important role in the etiology of complex diseases and may explain a significant fraction of the missing heritability in genetic disease studies. Next-generation sequencing facilitates the association of rare vari
Externí odkaz:
https://doaj.org/article/54394f1fe61b4efea767e89a29b01672
Autor:
Silke Peter, Mattia Bosio, Caspar Gross, Daniela Bezdan, Javier Gutierrez, Philipp Oberhettinger, Jan Liese, Wichard Vogel, Daniela Dörfel, Lennard Berger, Matthias Marschal, Matthias Willmann, Ivo Gut, Marta Gut, Ingo Autenrieth, Stephan Ossowski
Publikováno v:
mSphere, Vol 5, Iss 4 (2020)
ABSTRACT Infections with multidrug-resistant bacteria often leave limited or no treatment options. The transfer of antimicrobial resistance genes (ARG) carrying plasmids between bacterial species by horizontal gene transfer represents an important mo
Externí odkaz:
https://doaj.org/article/2cf7e4a17cfa49beb95a4b29d35844c0