• A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

  Atalaia, Antonio; Corvo, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)

  Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
• RNA-binding and prion domains: the Yin and Yang of phase separation

  Lorenzo Gotor, Maria de las Nieves; Armaos, Alexandros, 1989-; Calloni, Giulia; Torrent Burgas, Marc; Vabulas, R. Martin; Sánchez de Groot, Natalia; Tartaglia, Gian Gaetano (Oxford University Press, 2020)

  Proteins and RNAs assemble in membrane-less organelles that organize intracellular spaces and regulate biochemical reactions. The ability of proteins and RNAs to form condensates is encoded in their sequences, yet it is ...
• FASTQINS and ANUBIS: two bioinformatic tools to explore facts and artifacts in transposon sequencing and essentiality studies

  Miravet Verde, Samuel; Burgos, Raul; Delgado, Javier; Lluch-Senar, Maria 1982-; Serrano Pubull, Luis, 1982- (Oxford University Press, 2020)

  Transposon sequencing is commonly applied for identifying the minimal set of genes required for cellular life; a major challenge in fields such as evolutionary or synthetic biology. However, the scientific community has ...
• Discovery of EMRE in fungi resolves the true evolutionary history of the mitochondrial calcium uniporter

  Pittis, Alexandros, 1982-; Goh, Valerie; Cebrián Serrano, Alberto; Wettmarshausen, Jennifer; Perocchi, Fabiana; Gabaldón Estevan, Juan Antonio, 1973- (Nature Research, 2020)

  Calcium (Ca2+) influx into mitochondria occurs through a Ca2+-selective uniporter channel, which regulates essential cellular processes in eukaryotic organisms. Previous evolutionary analyses of its pore-forming subunits ...
• Hi-C chromosome conformation capture sequencing of avian genomes using the BGISEQ-500 platform

  Sandoval Velasco, Marcela; Rodríguez, Juan Antonio; Pérez Estrada, Cynthia; Zhang, Guojie; Lieberman Aiden, Erez; Martí Renom, Marc A.; Gilbert, M Thomas; Smith, Oliver (Oxford University Press, 2020)

  Background: Hi-C experiments couple DNA-DNA proximity with next-generation sequencing to yield an unbiased description of genome-wide interactions. Previous methods describing Hi-C experiments have focused on the ...
• Joyful for you and tender for us: the influence of individual characteristics and language on emotion labeling and classification

  Gómez Cañón, Juan Sebastián; Cano, Estefanía; Herrera Boyer, Perfecto, 1964-; Gómez Gutiérrez, Emilia, 1975- (2020)

  Tagging a musical excerpt with an emotion label may result in a vague and ambivalent exercise. This subjectivity entangles several high-level music description tasks when the computational models built to address them ...
• Active bilingualism delays the onset of mild cognitive impairment

  Calabria, Marco; Hernández Pardo, Mireia; Cattaneo, Gabriele, 1984-; Serras Robert, Mariona; Juncadella, Montserrat; Reñé, Ramón; Sala, Isabel; Lleó, Alberto; Ortiz-Gil, Jordi; Ugas, Lidia; Ávila, Asunción; Gómez Ruiz, Isabel; Ávila, César; Costa, Albert, 1970- (Elsevier, 2020)

  Lifelong bilingualism may contribute to cognitive reserve (CR) in neurodegenerative diseases as shown by a delay of the age at symptom onset in bilinguals with Alzheimer’s disease (AD) and Mild Cognitive Impairment (MCI). ...
• Chromatin activation as a unifying principle underlying pathogenic mechanisms in multiple myeloma

  Ordóñez, Raquel; Gut, Ivo Glynne; Martín-Subero, José I. (Cold Spring Harbor Laboratory Press (CSHL Press), 2020)

  Multiple myeloma (MM) is a plasma cell neoplasm associated with a broad variety of genetic lesions. In spite of this genetic heterogeneity, MMs share a characteristic malignant phenotype whose underlying molecular basis ...
• DiMSum: an error model and pipeline for analyzing deep mutational scanning data and diagnosing common experimental pathologies

  Faure, Andre J.; Schmiedel, Jörn M.; Baeza Centurión, Pablo, 1989-; Lehner, Ben, 1978- (BioMed Central, 2020)

  Deep mutational scanning (DMS) enables multiplexed measurement of the effects of thousands of variants of proteins, RNAs, and regulatory elements. Here, we present a customizable pipeline, DiMSum, that represents an ...
• Alternative enhancer usage and targeted polycomb marking hallmark promoter choice during T cell differentiation

  Maqbool, Muhammad Ahmad; Pioger, Léo; El Aabidine, Amal Zine; Karasu, Nezih; Molitor, Anne Marie; Dao, Lan T.M.; Charbonnier, Guillaume; van Laethem, François; Fenouil, Romain; Koch, Frederic; Lacaud, Georges; Gut, Ivo Glynne; Gut, Marta; Amigorena, Sebastian; Joffre, Olivier; Sexton, Thomas; Spicuglia, Salvatore; Andrau, Jean-Christophe (Elsevier, 2020)

  During thymic development and upon peripheral activation, T cells undergo extensive phenotypic and functional changes coordinated by lineage-specific developmental programs. To characterize the regulatory landscape controlling ...
• In utero and childhood exposure to tobacco smoke and multi-layer molecular signatures in children

  Vives Usano, Marta, 1990-; Hernández-Ferrer, Carles; Maitre, Léa; Ruiz Arenas, Carlos, 1990-; Borràs, Eva; Casas Sanahuja, Maribel; Estivill, Xavier, 1955-; González, Juan Ramón; Sabidó Aguadé, Eduard, 1981-; Vrijheid, Martine; Bustamante Pineda, Mariona (BioMed Central, 2020)

  Background: The adverse health effects of early life exposure to tobacco smoking have been widely reported. In spite of this, the underlying molecular mechanisms of in utero and postnatal exposure to tobacco smoke are only ...
• Zooming in on protein-RNA interactions: a multi-level workflow to identify interaction partners

  Colantoni, Alessio; Rupert, Jakob; Vandelli, Andrea; Tartaglia, Gian Gaetano; Zacco, Elsa (Portland Press, 2020)

  Interactions between proteins and RNA are at the base of numerous cellular regulatory and functional phenomena. The investigation of the biological relevance of non-coding RNAs has led to the identification of numerous ...
• Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

  McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)

  Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
• Severe autoinflammatory manifestations and antibody deficiency due to novel hypermorphic PLCG2 mutations Martín-Nalda, Andrea; Casals López, Ferran; Gimeno, Ramon; Pujol Vallverdú, Ramon Maria; Aróstegui, Juan Ignacio

  Martín-Nalda, Andrea; Casals López, Ferran; Gimeno, Ramon; Pujol Vallverdú, Ramon Maria; Aróstegui, Juan Ignacio (SpringerOpen, 2020)

  Autoinflammatory diseases (AIDs) were first described as clinical disorders characterized by recurrent episodes of seemingly unprovoked sterile inflammation. In the past few years, the identification of novel AIDs expanded ...
• Designing fully secure protocols for secure two-party computation of constant-domain functions

  Daza, Vanesa; Makriyannis, Nikolaos (Springer, 2017)

  In a sense, a two-party protocol achieves fairness if the output from the computation is obtained simultaneously by both parties. A seminal result by Cleve (STOC 1986) states that fairness is impossible, in general. ...
• Altered subcortical emotional salience processing differentiates parkinson's patients with and without psychotic symptoms

  Knolle, Franziska; Garofalo, S.; Viviani, R.; Justicia Díaz, Azucena; Ermakova, Anna O.; Blank, H.; Williams, G.B.; Arrondo, G.; Ramachandra, P.; Tudor-Sfetea, C.; Tudor-Sfetea, C.; Bunzeck, Nico; Düzel, Emrah; Robbins, T.W.; Barker, R.A.; Murray, Graham K. (Elsevier, 2020)

  Objective: Current research does not provide a clear explanation for why some patients with Parkinson's Disease (PD) develop psychotic symptoms. The 'aberrant salience hypothesis' of psychosis has been influential and ...
• Psychiatry in the aftermath of COVID-19

  Vieta, Eduard; Pérez Solá, Victor; Arango, Celso (Elsevier, 2020)
• Genomic analysis of the natural history of attention-deficit/hyperactivity disorder using Neanderthal and ancient Homo sapiens samples

  Esteller-Cucala, Paula; Maceda, Iago; Børglum, Anders D.; Demontis, Ditte; Faraone, Stephen V.; Cormand, Bru; Lao Grueso, Oscar, 1976- (Nature Research, 2020)

  Attention-deficit/hyperactivity disorder (ADHD) is an impairing neurodevelopmental condition highly prevalent in current populations. Several hypotheses have been proposed to explain this paradox, mainly in the context of ...
• Transcriptional activation during cell reprogramming correlates with the formation of 3D open chromatin hubs

  Di Stefano, Marco; Stadhouders, Ralph; Farabella, Irene; Castillo Andreo, David; Serra, François; Graf, T. (Thomas); Marti-Renom, Marc A. (Nature Research, 2020)

  Chromosome structure is a crucial regulatory factor for a wide range of nuclear processes. Chromosome conformation capture (3C)-based experiments combined with computational modelling are pivotal for unveiling 3D chromosome ...
• Genomic adaptations to aquatic and aerial life in mayflies and the origin of insect wings

  Almudí, Isabel; Wyatt, Christopher Douglas Robert, 1988-; Cruz, Fernando; Gómez-Garrido, Jèssica; Gut, Marta; Alioto, Tyler; Irimia, Manuel; Casares, Fernando (Nature Research, 2020)

  The evolution of winged insects revolutionized terrestrial ecosystems and led to the largest animal radiation on Earth. However, we still have an incomplete picture of the genomic changes that underlay this diversification. ...

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