Browsing by Author "Antonarakis, Stylianos E."

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  • Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely-expressed human genes
    Castelo Valdueza, Robert; Reymond, Alexandre; Wyss, Carine; Cámara, Francisco; Parra Farré, Genís; Antonarakis, Stylianos E.; Guigó Serra, Roderic; Eyras Jiménez, Eduardo (Oxford University Press, 2005)
    The recent availability of the chicken genome sequence poses the question of whether there are human protein-coding genes conserved in chicken that are currently not included in the human gene catalog. Here, we show, using ...
  • The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
    Sailani, M. Reza; Rabionet, Kelly; Serra Juhé, Clara, 1984-; Pérez Jurado, Luis Alberto; Estivill, Xavier, 1955-; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press (CSHL Press), 2013)
    Congenital heart defect (CHD) occurs in 40% of Down syndrome (DS) cases. While carrying three copies of chromosome 21 increases the risk for CHD, trisomy 21 itself is not sufficient to cause CHD. Thus, additional genetic ...
  • EGASP: the human ENCODE Genome Annotation Assessment Project
    Guigó Serra, Roderic; Flicek, Paul; Abril Ferrando, Josep Francesc; Reymond, Alexandre; Lagarde, Julien; Denoeud, France; Antonarakis, Stylianos E.; Ashburner, Michael; Bajic, Vladimir B.; Birney, Ewan; Castelo Valdueza, Robert; Eyras Jiménez, Eduardo; Ucla, Catherine; Gingeras, Thomas R.; Harrow, Jennifer; Hubbard, Tim J.; Lewis, Suzanna E.; Reese, Martin G. (BioMed Central, 2006)
    Background: We present the results of EGASP, a community experiment to assess the state-ofthe-/nart in genome annotation within the ENCODE regions, which span 1% of the human genome/nsequence. The experiment had two major ...
  • GENCODE: producing a reference annotation for ENCODE
    Harrow, Jennifer; Denoeud, France; Frankish, Adam; Reymond, Alexandre; Chen, Chao-Kung; Chrast, Jacqueline; Lagarde, Julien; Gilbert, James; Storey, Roy; Swarbreck, David; Rossier, Colette; Ucla, Catherine; Hubbard, Tim J.; Antonarakis, Stylianos E.; Guigó Serra, Roderic (BioMed Central, 2006)
    Background: The GENCODE consortium was formed to identify and map all protein-coding genes within the ENCODE regions. This was achieved by a combination of initial manual/nannotation by the HAVANA team, experimental ...
  • Gene finding in the chicken genome
    Eyras Jiménez, Eduardo; Reymond, Alexandre; Castelo Valdueza, Robert; Bye, Jacqueline M.; Cámara, Francisco; Flicek, Paul; Huckle, Elizabeth J.; Parra Farré, Genís; Shteynberg, David D.; Wyss, Carine; Rogers, Jane; Antonarakis, Stylianos E.; Birney, Ewan; Guigó Serra, Roderic; Brent, Michael R. (BioMed Central, 2005)
    Background: Despite the continuous production of genome sequence for a number of organisms,/nreliable, comprehensive, and cost effective gene prediction remains problematic. This is particularly/ntrue for genomes for which ...
  • Identifying protein-coding genes in genomic sequences
    Harrow, Jennifer; Nagy, Alinda; Reymond, Alexandre; Alioto, Tyler; Patthy, Laszlo; Antonarakis, Stylianos E.; Guigó Serra, Roderic (BioMed Central, 2009)
    The vast majority of the biology of a newly sequenced genome is inferred from the set of encoded proteins. Predicting this set is therefore invariably the first step after the completion of the genome DNA sequence. Here ...
  • Immune dysregulation and the increased risk of complications and mortality following respiratory tract infections in adults with Down dyndrome
    Illouz, Tomer; Biragyn, Arya; Iulita, Maria Florencia; Flores-Aguilar, Lisi; Dierssen, Mara; De Toma, Ilario; Antonarakis, Stylianos E.; Yu, Eugene; Herault, Yann; Potier, Marie-Claude; Botté, Alexandra; Roper, Randall; Sredni, Benjamin; London, Jacqueline; Mobley, William; Strydom, Andre; Okun, Eitan (Frontiers, 2021)
    The risk of severe outcomes following respiratory tract infections is significantly increased in individuals over 60 years, especially in those with chronic medical conditions, i.e., hypertension, diabetes, cardiovascular ...
  • Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21
    Lyle, Robert; Prandini, Paola; Osoegawa, Kazutoyo; Ten Hallers, Boudewijn; Humphray, Sean; Zhu, Baoli; Eyras Jiménez, Eduardo; Castelo Valdueza, Robert; Bird, Christine P.; Gagos, Sarantos; Scott, Carol; Cox, Antony; Deutsch, Samuel; Ucla, Catherine; Cruts, Marc; Dahoun, Sophie; She, Xinwei; Bena, Frederique; Wang, Sheng-Yue; Broeckhoven, Christine van; Eichler, Evan E.; Guigó Serra, Roderic; Rogers, Jane; De Jong, Pieter J.; Reymond, Alexandre; Antonarakis, Stylianos E. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    The goals of the human genome project did not include sequencing of the heterochromatic regions. We describe here an initial sequence of 1.1 Mb of the short arm of human chromosome 21 (HSA21p), estimated to be 10% of 21p. ...
  • Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region
    Brault, Véronique; Duchon, Arnaud; Romestaing, Caroline; Sahún, Ignasi; Pothion, Stéphanie; Karout, Mona; Borel, Christelle; Dembele, Doulaye; Bizot, Jean-Charles; Messaddeq, Nadia; Sharp, Andrew J.; Roussel, Damien; Antonarakis, Stylianos E.; Dierssen, Mara; Hérault, Yann (Public Library of Science (PLoS), 2015)
    The trisomy of human chromosome 21 (Hsa21), which causes Down syndrome (DS), is the most common viable human aneuploidy. In contrast to trisomy, the complete monosomy (M21) of Hsa21 is lethal, and only partial monosomy or ...
  • Prominent use of distal 5’ transcription start sites and discovery of a large number of additional exons in ENCODE regions
    Denoeud, France; Kapranov, Philipp; Ucla, Catherine; Frankish, Adam; Castelo Valdueza, Robert; Drenkow, Jorg; Lagarde, Julien; Alioto, Tyler; Manzano, Caroline; Chrast, Jacqueline; Dike, Sujit; Wyss, Carine; Henrichsen, Charlotte N.; Holroyd, Nancy; Dickson, Mark C.; Taylor, Ruth; Hance, Zahra; Foissac, Sylvain; Myers, Richard M.; Rogers, Jane; Hubbard, Tim J.; Harrow, Jennifer; Guigó Serra, Roderic; Gingeras, Thomas R.; Antonarakis, Stylianos E.; Reymond, Alexandre (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    This report presents systematic empirical annotation of transcript products from 399 annotated protein-coding loci across the 1% of the human genome targeted by the Encyclopedia of DNA elements (ENCODE) pilot project using ...
  • Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution
    Zheng, Deyou; Frankish, Adam; Baertsch, Robert; Kapranov, Philipp; Reymond, Alexandre; Choo, Siew Woh; Lu, Yontao; Denoeud, France; Antonarakis, Stylianos E.; Snyder, Michael; Ruan, Yijun; Wei, Chia-Lin; Gingeras, Thomas R.; Guigó Serra, Roderic; Harrow, Jennifer; Gerstein, Mark B. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    Arising from either retrotransposition or genomic duplication of functional genes, pseudogenes are “genomic fossils” valuable for exploring the dynamics and evolution of genes and genomes. Pseudogene identification is an ...
  • Structured RNAs in the ENCODE selected regions of the human genome
    Washietl, Stefan; Pedersen, Jackob S.; Korbel, Jan O.; Stocsits, Claudia; Gruber, Andreas R.; Hackermüller, Jörg; Hertel, Jana; Lindemeyer, Manja; Reiche, Kristin; Tanzer, Andrea; Ucla, Catherine; Wyss, Carine; Antonarakis, Stylianos E.; Denoeud, France; Lagarde, Julien; Drenkow, Jorg; Kapranov, Philipp; Gingeras, Thomas R.; Guigó Serra, Roderic; Snyder, Michael; Gerstein, Mark B.; Reymond, Alexandre; Hofacker, Ivo L.; Stadler, Peter F. (Cold Spring Harbor Laboratory Press-CSHL Press, 2007)
    Functional RNA structures play an important role both in the context of noncoding RNA transcripts as well as regulatory elements in mRNAs. Here we present a computational study to detect functional RNA structures within ...
  • Tandem chimeric transcription as a means to increase protein diversity in the human genome
    Parra Farré, Genís; Reymond, Alexandre; Dabbouseh, Noura; Dermitzakis, Emmanuouil T.; Thomson, Timothy M.; Antonarakis, Stylianos E.; Guigó Serra, Roderic (Cold Spring Harbor Laboratory Press-CSHL Press, 2006)
    The “one-gene, one-protein” rule, coined by Beadle and Tatum, has been fundamental to molecular biology. The rule implies that the genetic complexity of an organism depends essentially on its gene number. The discovery, ...