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1
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
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Artigo
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A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Morales, 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 D

Nature (London), 2022-04, Vol.604 (7905), p.310-315 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

MacArthur, 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, Fiona

Nucleic acids research, 2014-01, Vol.42 (D1), p.D873-D878 [Periódico revisado por pares]

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3
P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants
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P539: Fostering a common language in clinical genomics: MANE Select as a universal standard to report clinical variants

Pujar, 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, Terence

Genetics in Medicine Open, 2023, Vol.1 (1), p.100586, Article 100586 [Periódico revisado por pares]

Elsevier Inc

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4
Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution
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Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

Elsik, Christine G ; Tellam, Ross L ; Worley, Kim C

Science (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 Science

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5
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants
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Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

MacArthur, 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, Fiona

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D873-D878 [Periódico revisado por pares]

England: Oxford University Press

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6
Locus Reference Genomic sequences: an improved basis for describing human DNA variants
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Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Dalgleish, 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 R

Genome medicine, 2010-04, Vol.2 (4), p.24-24 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
The completion of the Mammalian Gene Collection (MGC)
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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, Stefan

Genome research, 2009-12, Vol.19 (12), p.2324-2333 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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8
Deterministic algorithms for sampling count data
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Artigo
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Deterministic algorithms for sampling count data

Akcan, Hüseyin ; Astashyn, Alex ; Brönnimann, Hervé

Data & knowledge engineering, 2008-02, Vol.64 (2), p.405-418 [Periódico revisado por pares]

Elsevier B.V

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9
Locus Reference Genomic sequences: an improved basis for describing human DNA variants
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Artigo
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Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Dalgleish, 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 R

Genome medicine, 2010-04, Vol.2, p.24 [Periódico revisado por pares]

BioMed Central Ltd

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10
RefSeq Select: a curated set of representative transcripts for mouse protein-coding genes
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Imagem
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RefSeq Select: a curated set of representative transcripts for mouse protein-coding genes

Shashikant 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, Terence

TAGC 2020 2020

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