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Material Type: Artigo
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A joint NCBI and EMBL-EBI transcript set for clinical genomics and researchMorales, Joannella ; Pujar, Shashikant ; Loveland, Jane E ; Astashyn, Alex ; Bennett, Ruth ; Berry, Andrew ; Cox, Eric ; Davidson, Claire ; Ermolaeva, Olga ; Farrell, Catherine M ; Fatima, Reham ; Gil, Laurent ; Goldfarb, Tamara ; Gonzalez, Jose M ; Haddad, Diana ; Hardy, Matthew ; Hunt, Toby ; Jackson, John ; Joardar, Vinita S ; Kay, Michael ; Kodali, Vamsi K ; McGarvey, Kelly M ; McMahon, Aoife ; Mudge, Jonathan M ; Murphy, Daniel N ; Murphy, Michael R ; Rajput, Bhanu ; Rangwala, Sanjida H ; Riddick, Lillian D ; Thibaud-Nissen, Françoise ; Threadgold, Glen ; Vatsan, Anjana R ; Wallin, Craig ; Webb, David ; Flicek, Paul ; Birney, Ewan ; Pruitt, Kim D ; Frankish, Adam ; Cunningham, Fiona ; Murphy, Terence DNature (London), 2022-04, Vol.604 (7905), p.310-315 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variantsMacArthur, Jacqueline A. L. ; Morales, Joannella ; Tully, Ray E. ; Astashyn, Alex ; Gil, Laurent ; Bruford, Elspeth A. ; Larsson, Pontus ; Flicek, Paul ; Dalgleish, Raymond ; Maglott, Donna R. ; Cunningham, FionaNucleic acids research, 2014-01, Vol.42 (D1), p.D873-D878 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variantsPujar, Shashikant ; Loveland, Jane ; Astashyn, Alex ; Bennett, Ruth ; Berry, Andrew ; Cox, Eric ; Davidson, Claire ; Ermolaeva, Olga ; Farrell, Catherine ; Fatima, Reham ; Goldfarb, Tamara ; Gonzalez, Jose ; Haddad, Diana ; Hardy, Matthew ; Hunt, Toby ; Jackson, John ; Joardar, Vinita ; Kay, Michael ; Kodali, Vamsi ; McGarvey, Kelly ; Mudge, Jonathan ; Murphy, Michael ; Rangwala, Sanjida ; Thibaud-Nissen, Françoise ; Vatsan, Anjana ; Craig, Wallin ; David, Webb ; Frankish, Adam ; Cunningham, Fiona ; Murphy, TerenceGenetics in Medicine Open, 2023, Vol.1 (1), p.100586, Article 100586 [Periódico revisado por pares]Elsevier IncSem texto completo |
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4 |
Material Type: Artigo
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Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and EvolutionElsik, Christine G ; Tellam, Ross L ; Worley, Kim CScience (American Association for the Advancement of Science), 2009-04, Vol.324 (5926), p.522-528 [Periódico revisado por pares]Washington, DC: American Association for the Advancement of ScienceTexto completo disponível |
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Material Type: Artigo
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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variantsMacArthur, Jacqueline A L ; Morales, Joannella ; Tully, Ray E ; Astashyn, Alex ; Gil, Laurent ; Bruford, Elspeth A ; Larsson, Pontus ; Flicek, Paul ; Dalgleish, Raymond ; Maglott, Donna R ; Cunningham, FionaNucleic acids research, 2014-01, Vol.42 (Database issue), p.D873-D878 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Locus Reference Genomic sequences: an improved basis for describing human DNA variantsDalgleish, Raymond ; Flicek, Paul ; Cunningham, Fiona ; Astashyn, Alex ; Tully, Raymond E ; Proctor, Glenn ; Chen, Yuan ; McLaren, William M ; Larsson, Pontus ; Vaughan, Brendan W ; Béroud, Christophe ; Dobson, Glen ; Lehväslaiho, Heikki ; Taschner, Peter Em ; den Dunnen, Johan T ; Devereau, Andrew ; Birney, Ewan ; Brookes, Anthony J ; Maglott, Donna RGenome medicine, 2010-04, Vol.2 (4), p.24-24 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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The completion of the Mammalian Gene Collection (MGC)Temple, Gary ; Rasooly, Rebekah ; Feingold, Elise A ; Good, Peter J ; Robinson, Cristen ; Derge, Jeffrey G ; Lewis, Jeanne ; Shoaf, Debonny ; Collins, Francis S ; Jang, Wonhee ; Wagner, Lukas ; Shenmen, Carolyn M ; Buetow, Kenneth H ; Bonner, Tom I ; Ward, Ming ; Brown, Garth ; Farrell, Catherine ; Hart, Jennifer ; Maidak, Bonnie L ; Murphy, Terence ; Rajput, Bhanu ; Webb, David ; Weber, Janet ; Wu, Wendy ; Pruitt, Kim D ; Maglott, Donna ; Siepel, Adam ; Brejova, Brona ; Diekhans, Mark ; Harte, Rachel ; Baertsch, Robert ; Kent, Jim ; Haussler, David ; Brent, Michael ; Langton, Laura ; Comstock, Charles L G ; Stevens, Michael ; Wei, Chaochun ; van Baren, Marijke J ; Murray, Ryan R ; Ghamsari, Lila ; Mello, Elizabeth ; Lin, Chenwei ; Pennacchio, Christa ; Schreiber, Kirsten ; Shapiro, Nicole ; Moore, Troy ; Muratet, Mike ; Kloske, David ; Sieja, Stephanie ; Hudson, James ; Sethupathy, Praveen ; Brownstein, Michael ; Bhat, Narayan ; Smith, Mark R ; McPherson, John ; Garcia, Angela M ; Gunaratne, Preethi H ; Wu, Jiaqian ; Muzny, Donna ; Gibbs, Richard A ; Young, Alice C ; Bouffard, Gerard G ; Blakesley, Robert W ; Mullikin, Jim ; Green, Eric D ; Dickson, Mark C ; Rodriguez, Alex C ; Grimwood, Jane ; Schmutz, Jeremy ; Myers, Richard M ; Hirst, Martin ; Tse, Kane ; Deng, Merinda ; Mah, Diana ; Taylor, Greg ; Deng, Athena ; Fichter, Keith ; Go, Anne ; Lee, Stephanie ; Griffith, Malachi ; Morin, Ryan ; Moore, Richard A ; Mayo, Michael ; Munro, Sarah ; Wagner, Susan ; Holt, Robert A ; Marra, Marco A ; Lu, Sun ; Yang, Shuwei ; Graf, Marcus ; Letovksy, Stanley ; Pulido, Jacqueline C ; Robison, Keith ; Esposito, Dominic ; Hartley, James ; Wall, Vanessa E ; Hopkins, Ralph F ; Ohara, Osamu ; Wiemann, StefanGenome research, 2009-12, Vol.19 (12), p.2324-2333 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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8 |
Material Type: Artigo
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Deterministic algorithms for sampling count dataAkcan, Hüseyin ; Astashyn, Alex ; Brönnimann, HervéData & knowledge engineering, 2008-02, Vol.64 (2), p.405-418 [Periódico revisado por pares]Elsevier B.VTexto completo disponível |
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9 |
Material Type: Artigo
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Locus Reference Genomic sequences: an improved basis for describing human DNA variantsDalgleish, Raymond ; Flicek, Paul ; Cunningham, Fiona ; Astashyn, Alex ; Tully, Raymond E ; Proctor, Glenn ; Chen, Yuan ; McLaren, William M ; Larsson, Pontus ; Vaughan, Brendan W ; Béroud, Christophe ; Dobson, Glen ; Lehväslaiho, Heikki ; Taschner, Peter EM ; den Dunnen, Johan T ; Devereau, Andrew ; Birney, Ewan ; Brookes, Anthony J ; Maglott, Donna RGenome medicine, 2010-04, Vol.2, p.24 [Periódico revisado por pares]BioMed Central LtdTexto completo disponível |
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Material Type: Imagem
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RefSeq Select: a curated set of representative transcripts for mouse protein-coding genesShashikant Pujar ; Astashyn, Alex ; Cox, Eric ; Ermolaeva, Olga ; Farrell, Catherine ; Goldfarb, Tamara ; Jackson, John ; Joardar, Vinita ; Vamsi Kodali ; McGarvey, Kelly ; Murphy, Michael ; Bhanu Rajput ; Riddick, Lillian ; Wallin, Craig ; Webb, David ; Murphy, TerenceTAGC 2020 2020Texto completo disponível |