• VarQ: a tool for the structural and functional analysis of human protein variants

  Radusky, Leandro; Modenutti, Carlos; Delgado, Javier; Bustamante, Juan P.; Vishnopolska, Sebastian; Kiel, Christina; Serrano Pubull, Luis, 1982-; Marti, Marcelo; Turjanski, Adrián (Frontiers, 2018)

  Understanding the functional effect of Single Amino acid Substitutions (SAS), derived from the occurrence of single nucleotide variants (SNVs), and their relation to disease development is a major issue in clinical genomics. ...
• Ten steps to get started in Genome Assembly and Annotation

  Dominguez Del Angel, Victoria; Hjerde, Erik; Sterck, Lieven; Capella Gutiérrez, Salvador Jesús, 1985-; Notredame, Cedric; Vinnere Pettersson, Olga; Amselem, Joëlle; Bouri, Laurent; Bocs, Stephanie; Klopp, Christophe; Gibrat, Jean-François; Vlasova, Anna; Leskosek, Brane L.; Soler, Lucile; Binzer-Panchai, Mahesh; Lantz, Henrik (F1000Research, 2018)

  As a part of the ELIXIR-EXCELERATE efforts in capacity building, we present here 10 steps to facilitate researchers getting started in genome assembly and genome annotation. The guidelines given are broadly applicable, ...
• Registered access: authorizing data access

  Dyke, Stephanie O. M.; De Argila, Jordi Rambla; Flicek, Paul (Nature Research, 2018)

  The Global Alliance for Genomics and Health (GA4GH) proposes a data access policy model-"registered access"-to increase and improve access to data requiring an agreement to basic terms and conditions, such as the use of ...
• RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

  Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium (Nature Research, 2018)

  Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship ...
• The genetic landscape of a physical interaction

  Diss, Guillaume; Lehner, Ben, 1978- (eLife, 2018)

  A key question in human genetics and evolutionary biology is how mutations in different genes combine to alter phenotypes. Efforts to systematically map genetic interactions have mostly made use of gene deletions. However, ...
• Quantification of gene expression patterns to reveal the origins of abnormal morphogenesis

  Martínez Abadías, Neus; Mateu-Estivill, Roger; Sastre-Tomas, Jaume; Motch Perrine, Susan; Yoon, Melissa; Robert Moreno, Alexandre; Swoger, Jim; Russo, Lucia; Kawasaki, Kazuhiko (eLife, 2018)

  The earliest developmental origins of dysmorphologies are poorly understood in many congenital diseases. They often remain elusive because the first signs of genetic misregulation may initiate as subtle changes in gene ...
• Prevalence of dementia diagnoses not otherwise specified in eight European countries: a cross-sectional cohort study

  Lethin, Connie; Rahm Hallberg, Ingalill; Renom-Guiteras, Anna; Verbeek, Hilde; Saks, Kai; Stolt, Minna; Zabalegui, Adelaida; Soto-Martin, Maria; Nilsson, Christer (BioMed Central, 2019)

  BACKGROUND: Dementia is a syndrome, with a wide range of symptoms. It is important to have a timely diagnosis during the disease course to reduce the risk of medication errors, enable future care planning for the patient ...
• GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

  Couto Alves, Alexessander; Estivill, Xavier, 1955-; Sunyer Deu, Jordi; Early Growth Genetics (EGG) Consortium (American Association for the Advancement of Science (AAAS), 2019)

  Early childhood growth patterns are associated with adult health, yet the genetic factors and the developmental stages involved are not fully understood. Here, we combine genome-wide association studies with modeling of ...
• Association of maternal iodine status with child IQ: a meta-analysis of individual participant data

  Levie, Deborah; Korevaar, Tim I. M.; Bath, Sarah C.; Murcia, Mario; Dineva, Mariana; Llop, Sabrina; Espada, Mercedes; van Herwaarden, Antonius E.; de Rijke, Yolanda B.; Ibarluzea, Jesús; Sunyer Deu, Jordi; Tiemeier, Henning; Rayman, Margaret P.; Guxens Junyent, Mònica; Peeters, Robin P. (Oxford University Press, 2019)

  Context: Although the consequences of severe iodine deficiency are beyond doubt, the effects of mild to moderate iodine deficiency in pregnancy on child neurodevelopment are less well established. Objective: To study the ...
• Maternal circulating Vitamin D3 levels during pregnancy and behaviour across childhood

  López Vicente, Mònica, 1988-; Sunyer Deu, Jordi; Lertxundi, Nerea; González, Llúcia; Rodríguez Dehli, Cristina; Espada Sáenz-Torre, Mercedes; Vrijheid, Martine; Tardón, Adonina; Llop, Sabrina; Torrent Quetglas, Maties; Ibarluzea, Jesús; Guxens Junyent, Mònica (Nature Research, 2019)

  Vitamin D deficiency during critical periods of development could lead to persistent brain alterations. We aimed to assess the association between maternal vitamin D3, the major circulatory form of vitamin D, at pregnancy ...
• Da-TACOS: A dataset for cover song identification and understanding

  Yesiler, Furkan; Tralie, Chris; Correya, Albin Andrew; Silva, Diego F.; Tovstogan, Philip; Gómez Gutiérrez, Emilia, 1975-; Serra, Xavier (International Society for Music Information Retrieval (ISMIR), 2019)

  This paper focuses on Cover Song Identification (CSI), an important research challenge in content-based Music Information Retrieval (MIR). Although the task itself is interesting and challenging for both academia and ...
• Phrase-Level modeling of expression in violin performances

  Ortega, Fabio J. M.; Giraldo, Sergio; Pérez Carrillo, Alfonso Antonio, 1977-; Ramírez, Rafael,1966- (Frontiers, 2019)

  Background: Expression is a key skill in music performance, and one that is difficult to address in music lessons. Computational models that learn from expert performances can help providing suggestions and feedback to ...
• Transmedia literacy in the new media ecology: an internacional map of teens' transmedia skills

  Scolari, Carlos Alberto, 1963-; Masanet, Maria-Jose; Guerrero Pico, María del Mar; Establés, María-José (ETC Press, 2019)

  The emergence of new media, devices, narratives, and practices has compelled media literacy scholars and professionals to review their theoretical frameworks and methodological approaches. Based on a new concept—transmedia ...
• Association of exposure to ambient air pollution with thyroid function during pregnancy

  Ghassabian, Akhgar; Pierotti, Livia; Julvez, Jordi; Vrijheid, Martine; Sunyer Deu, Jordi; Guxens Junyent, Mònica (American Medical Association, 2019)

  Importance: Air pollutants interact with estrogen nuclear receptors, but their effect on thyroid signaling is less clear. Thyroid function is of particular importance for pregnant women because of the thyroid’s role in ...
• Creating civil citizens? The value and limits of teaching civility in schools

  Cormier, Andrée Anne; Brighouse, Harry (Taylor & Francis (Routledge), 2019)
• Dynamics of transcription regulation in human bone marrow myeloid differentiation to mature blood neutrophils

  Grassi, Luigi; Ullrich, Sebastian, 1984-; Merkel, Angelika; Gut, Marta; Heath, Simon; Gut, Ivo Glynne; Kuijpers, Taco W. (Elsevier, 2018)

  Neutrophils are short-lived blood cells that play a critical role in host defense against infections. To better comprehend neutrophil functions and their regulation, we provide a complete epigenetic overview, assessing ...
• MICU1 confers protection from MCU-dependent manganese toxicity

  Wettmarshausen, Jennifer; Goh, Valerie; Huang, Kai-Ting; Arduino, Daniela M.; Tripathi, Utkarsh; Leimpek, Anja; Cheng, Yiming; Pittis, Alexandros, 1982-; Gabaldón Estevan, Juan Antonio, 1973-; Mokranjac, Dejana; Hajnóczky, György; Perocchi, Fabiana (Elsevier, 2018)

  The mitochondrial calcium uniporter is a highly selective ion channel composed of species- and tissue-specific subunits. However, the functional role of each component still remains unclear. Here, we establish a synthetic ...
• Systems level expression correlation of Ras GTPase regulators

  Besray Unal, E.; Kiel, Christina; Benisty, Hannah; Campbell, Andrew; Pickering, Karen; Blüthgen, Nils; Sansom, Owen J.; Serrano Pubull, Luis, 1982- (BioMed Central, 2018)

  Background: Proteins of the ubiquitously expressed core proteome are quantitatively correlated across multiple eukaryotic species. In addition, it was found that many protein paralogues exhibit expression anticorrelation, ...
• FUS phase separation is modulated by a molecular chaperone and methylation of arginine cation-π interactions

  Qamar, Seema; Tartaglia, Gian Gaetano; St George-Hyslop, Peter (Elsevier, 2018)

  Reversible phase separation underpins the role of FUS in ribonucleoprotein granules and other membrane-free organelles and is, in part, driven by the intrinsically disordered low-complexity (LC) domain of FUS. Here, we ...
• A Framework for multi-f0 modeling in SATB choir recordings

  Cuesta, Helena; Gómez Gutiérrez, Emilia, 1975-; Chandna, Pritish (Sound and Music Computing, 2019)

  Fundamental frequency (f0) modeling is an important but relatively unexplored aspect of choir singing. Performance evaluation as well as auditory analysis of singing, whether individually or in a choir, often depend on ...

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