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An integrated encyclopedia of DNA elements in the human genome

Autor: Robert Altshuler, Laura Elnitski, Michael Anaya, Alec Victorsen, Deborah Winter, Javier Herrero, Katherine Varley, Andrea Sboner, Oscar Junhong Luo, Marco Mariotti, Cristina Sisu, Mike Kay, Timothy Dreszer, Jane Loveland, Alexandra Bignell, Ewan Birney, Tim @timjph Hubbard, Kuljeet Sandhu, Eric Haugen, Chris Gunter, Alexej Abyzov, Lucas Ward, Georgi Marinov, Michael Pazin, Thomas Gingeras, Alexander Dobin, Kimberly Foss, Xianjun Dong, Benoit Miotto, Piotr Mieczkowski, Cedric Notredame, Andrew Berry, Shawn Gillespie, Axel Visel, Shawn Levy, Richard Sandstrom, Jose M Gonzalez, Melissa Fullwood, Timo Lassmann, Michael Tress, Julien Lagarde, Kevin Yip, Leslie Adams, Sylvain Foissac, Bronwen Aken, Piero Carninci, Suganthi Balasubramanian, Andrea Tanzer, Sarah Djebali, Michael Hoffman, Gloria Despacio-Reyes, Peter Park, Felix Kokocinski, Katherine Fisher-Aylor, Juan M Vaquerizas, Peggy Farnham, Patrick Collins, Amonida Zadissa, Pedro Ferreira, Philippe Batut, Michael Snyder, Electra Tapanari, Adam Frankish, Paul Flicek, AMARTYA SANYAL, Tyler Alioto, Giovanni Bussotti, Laurence Meyer, Jingyi Jessica Li, Matthew Blow, Tristan FRUM, Roger Alexander, Rory Johnson, Charles Steward, Meizhen Zheng, Margus Lukk, Ross Hardison, Claire Davidson, Gary Saunders, Alan Boyle, Luiz Penalva, Rajinder Kaul, Lazaro Centanin, Florencia Pauli Behn, Thomas Derrien, Nathan Sheffield, Toby Hunt, Eric Nguyen, Jeff Vierstra, Konrad Karczewski, Kimberly Bell, Yanbao Yu, Hagen U Tilgner, James Taylor, Balázs Bánfai, Catherine Snow, Benjamin Vernot, Stephan Kirchmaier, Michael Sammeth, Steven Wilder, Angelika Merkel, Joanna Mieczkowska, Guoliang Li, Wei Lin, Jennifer Harrow, Thomas Oliver Auer, Daniel Barrell, Eddie Park, Alvis Brazma, Hazuki Takahashi, Nathan Johnson, Daniel Sobral, Terry Furey, Alexandre Reymond, Jonathan Mudge, Anshul Kundaje, Jose Rodriguez, Akshay Bhinge, James Gilbert, Jakub Karczewski, Venkat Malladi, Troy Whitfield, Orion Buske, Ian Dunham, Jennifer Moran, Joachim Wittbrodt, Charles B. Epstein, Laurens Wilming, Jason Gertz, Joshua Akey, Joel Rozowsky

Publikováno v: Nature
Nature, Nature Publishing Group, 2012, 489 (7414), pp.57-74. ⟨10.1038/nature11247⟩
NATURE
Nature, Vol. 489, No 7414 (2012) pp. 57-74
PMC
Recercat. Dipósit de la Recerca de Catalunya
instname

The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription fa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b208801384684d0028cc28316677b0d
https://hal.archives-ouvertes.fr/hal-01217624

Modified Rules for Classification of Variants Associated With Disorders of Somatic Mosaicism.

Autor: Leon-Quintero FZ; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Pathology Department, Hospital San Javier, Guadalajara, Mexico., Bowling KM; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Dickson A; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Corliss MM; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Schroeder MC; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Neidich JA; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Heusel JW; Department of Pathology, Renaissance School of Medicine, State University of New York at Stony Brook, Stony Brook, New York, USA., Krysiak K; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Polonis K; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Parikh BA; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA., Cao Y; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.

Publikováno v: Clinical genetics [Clin Genet] 2024 Oct 21. Date of Electronic Publication: 2024 Oct 21.

Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.

Autor: Lemke AA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gimpel EC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., McNamara KC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Rich CA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Bowling KM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL 35899, USA., Meddaugh H; Department of Genetics, Ochsner Health System, New Orleans, LA 70121, USA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Jackson KE; Division of Genetics, Norton Children's Genetics Center, University of Louisville School of Medicine, Louisville, KY 40202, USA., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Janani HM; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Deans SL; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Hughes T; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Savich R; Pediatrics Neonatology Division, University of New Mexico Health Sciences Center, Albuquerque, NM 87106, USA., Spedale SB; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Knight SJ; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Brothers KB; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.

Publikováno v: Journal of personalized medicine [J Pers Med] 2023 Jun 21; Vol. 13 (7). Date of Electronic Publication: 2023 Jun 21.

Genome sequencing as a first-line diagnostic test for hospitalized infants.

Autor: Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL; University of Alabama in Huntsville, Huntsville, AL., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Jackson KE; Department of Pediatrics, University of Louisville, Louisville, KY., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Janani HM; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Deans SL; Department of Pediatrics, University of Louisville, Louisville, KY., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Kandasamy J; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Carlo W; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Brothers KB; Department of Pediatrics, University of Louisville, Louisville, KY., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Savich R; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Superneau D; Department of Genetics, Woman's Hospital, Baton Rouge, LA., Spedale SB; Department of Pediatrics, Woman's Hospital, Baton Rouge, LA., Knight SJ; Department of Internal Medicine, University of Utah Health, Salt Lake City, UT., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 851-861. Date of Electronic Publication: 2021 Nov 27.