Ensembl’s 10th year

Ensembl (http://www.ensembl.org) integrates genomic information for a comprehensive set of chordate genomes with a particular focus on resources for human, mouse, rat, zebrafish and other high-value sequenced genomes. We provide complete gene annotations for all supported species in addition to specific resources that target genome variation, function and evolution. Ensembl data is accessible in a variety of formats including via our genome browser, API and BioMart. This year marks the tenth anniversary of Ensembl and in that time the project has grown with advances in genome technology. As of release 56 (September 2009), Ensembl supports 51 species including marmoset, pig, zebra finch, lizard, gorilla and wallaby, which were added in the past year. Major additions and improvements to Ensembl since our previous report include the incorporation of the human GRCh37 assembly, enhanced visualisation and data-mining options for the Ensembl regulatory features and continued development of our software infrastructure

Ensembl 2013

The Ensembl projec

[Correspondencia de Camilo Díaz Baliño] , 1917-1936

Mss. (algúns en fotocopia) autógrafo e mecanografiadoResumen: Correspondencia recibida por Camilo Díaz Baliño entre os anos 1917-1936 relacionada con asuntos persoais e laboraisBiblioteca de GaliciaForma de ingreso: Depósito. Fuente de ingreso: Díaz Pardo, Isaac. Fecha de ingreso: 2011. Propietario: Herdeiros de Isaac Díaz PardoDixitalización Telefónica-IDP 2012Contén : Cartas de: Manuel Abelenda (1 páx.) -- Cesar Alvarez (1 páx.) -- Carlos Amigo Collía (2 páxs.) -- Banco Hispano-Americano (2 páxs.) -- Alfonso Barreiro (3 páxs.) -- Eliseo Barros Gamallo (1 páx.),(2 páxs.) -- Ramón Beade (2 páxs.) -- Benito(2 páxs.) -- Fernando Blanco(1 páx.) -- José Bouzas y Cardama (1 páx.) -- Albino Bouzó Fernández (1 páx.),(2 páxs) -- José Cabada Vázquez (4 páxs.),(1 páx.),(1 páx.) --Salvador Cabeza (1 páx.) -- Antonio Carballa (1 páx.) -- Leandro y Euxenio Carré (2 páxs.) -- V. Carro (1 páx.) -- Santiago Casares (1 páx.) -- Alvaro Cebreiro (2 páxs.) -- Centro Gallego de Buenos Aires (1 páx.),(1 páx.) -- Compostela (2 páxs.) -- Manolo: Continental (2 páxs.) -- Coral de Ruada (1 páx.),(2 páxs.) -- Amando Cotarelo(1 páx.),(1 páx.) -- Eduardo Dorado Xaneiro (8 páx.) -- Círculo Mercantil e Idustrial: Ramón Fernández (1 páx.) --Virgilio Fernández(3 páxs.) -- Ramón Fernández Mato (2 páxs.) -- B. Ferreiro(1 páx.) -- Jenaro de la Fuente (1 páx.) -- Isaac Fraga: Espéctaculos Empresa Fraga (1 páx.),(1 páx.) -- Antonio Folgar Lema(1 páx.)--Alicio Garcitoral (1 páx.) -- Cándido González Raño (1 páx.) -- Daniel González Rodriguez (2 páxs.),(2 páxs.) -- Edurardo G.del Río (1 páx.) -- Hermanos Hernández (2 páxs.),(1 páx.),(1 páx.),(1 páx.) -- José Iglesias Sánchez (2 páxs.) -- Irmandades da Fala (1 páx.) -- José Silva? (2 páxs.) -- Arturo Longa (1 páx.) -- Casimiro López (1 páx.) -- Edmundo López (1 páx.),(1 páx.) -- Eduardo R. Losada y Rebellón (2 páx.) -- Carlos Maside (1 páx.) -- Enrique Mayer (1 páx.) -- Antonio Méndez Laserna (1 páx.) -- Anselmo Padín (1 páx.) -- Xavier Pardo (1 páx.) -- Partido Republicano Radical Socialista (1 páx.) -- Pérez Bustamante (1 páx.) -- Modesto Piñeiro (2 páxs.) -- Salustiano Portela (2 páxs.) -- José Seijo Rubio (2 páxs.) -- Suarez Picallo (2 páxs.) -- Luis Losada (1 páx), (1 páx.) -- Ricardo Valdés (2 páxs.),(2 páxs.),(2 páxs.),(1 páx.) -- A.Nilo Varela (1 páx.),(2 páxs.),(2 páxs.) -- Juan Varela de Limia (1 páx.) -- Victorino? Varela (1 páx.) -- Jesús Varela (3 páxs.) -- F.Vázquez Suarez (1 páx.) -- Santiago Vidal Gimeno (1 páx.) -- Pedro Vieitez (1 páx.) -- M. Villar (2 páxs.) -- Anónima (1 páx.) -- Anónima (1 páx.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

BackgroundWe previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. Therefore, the determinants of life-threatening COVID-19 remain to be identified in similar to 80% of cases.MethodsWe report here a genome-wide rare variant burden association analysis in 3269 unvaccinated patients with life-threatening COVID-19, and 1373 unvaccinated SARS-CoV-2-infected individuals without pneumonia. Among the 928 patients tested for autoantibodies against type I IFN, a quarter (234) were positive and were excluded.ResultsNo gene reached genome-wide significance. Under a recessive model, the most significant gene with at-risk variants was TLR7, with an OR of 27.68 (95%CI 1.5-528.7, P=1.1x10(-4)) for biochemically loss-of-function (bLOF) variants. We replicated the enrichment in rare predicted LOF (pLOF) variants at 13 influenza susceptibility loci involved in TLR3-dependent type I IFN immunity (OR=3.70[95%CI 1.3-8.2], P=2.1x10(-4)). This enrichment was further strengthened by (1) adding the recently reported TYK2 and TLR7 COVID-19 loci, particularly under a recessive model (OR=19.65[95%CI 2.1-2635.4], P=3.4x10(-3)), and (2) considering as pLOF branchpoint variants with potentially strong impacts on splicing among the 15 loci (OR=4.40[9%CI 2.3-8.4], P=7.7x10(-8)). Finally, the patients with pLOF/bLOF variants at these 15 loci were significantly younger (mean age [SD]=43.3 [20.3] years) than the other patients (56.0 [17.3] years; P=1.68x10(-5)).ConclusionsRare variants of TLR3- and TLR7-dependent type I IFN immunity genes can underlie life-threatening COVID-19, particularly with recessive inheritance, in patients under 60 years old