Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Craig, Wallin"'
Autor:
Joannella Morales, Shashikant Pujar, Jane E. Loveland, Alex Astashyn, Ruth Bennett, Andrew Berry, Eric Cox, Claire Davidson, Olga Ermolaeva, Catherine M. Farrell, Reham Fatima, Laurent Gil, Tamara Goldfarb, Jose M. Gonzalez, Diana Haddad, Matthew Hardy, Toby Hunt, John Jackson, Vinita S. Joardar, Michael Kay, Vamsi K. Kodali, Kelly M. McGarvey, Aoife McMahon, Jonathan M. Mudge, Daniel N. Murphy, Michael R. Murphy, Bhanu Rajput, Sanjida H. Rangwala, Lillian D. Riddick, Françoise Thibaud-Nissen, Glen Threadgold, Anjana R. Vatsan, Craig Wallin, David Webb, Paul Flicek, Ewan Birney, Kim D. Pruitt, Adam Frankish, Fiona Cunningham, Terence D. Murphy
Publikováno v:
Nature. 604:310-315
Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1dc0dd958a209783c4e67bd45d37986
https://doi.org/10.1038/s41586-022-04558-8
https://doi.org/10.1038/s41586-022-04558-8
Autor:
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
Publikováno v:
In Genetics in Medicine Open 2023 1(1) Supplement
Autor:
Claire Davidson, Jonathan M. Mudge, Marie-Marthe Suner, Vamsi K. Kodali, Ruth L. Seal, Ruth Bennett, Shashikant Pujar, Fergal J. Martin, Carol J. Bult, M. Kay, Catherine M. Farrell, Nuala A. O'Leary, Craig Wallin, Carlos García Girón, Andrew Berry, If Barnes, Tamara Goldfarb, Adam Frankish, Kelly M. McGarvey, Bronwen Aken, Kim D. Pruitt, Mark Diekhans, Sophia Zhu, Terence Murphy, Michael R. Murphy, Elspeth A. Bruford, Monica S. McAndrews, John D. Jackson, Lillian D. Riddick, Bhanu Rajput, David Webb, Sanjida H. Rangwala, Eric Cox, Jose Manuel Gonzalez, Jane E. Loveland, Toby Hunt, Vinita Joardar
Publikováno v:
Nucleic Acids Research
The Consensus Coding Sequence (CCDS) project provides a dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assembly in genome annotations produced independently by NCBI and the Ensembl group at EM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88944e49a83630689ec8bdd5176bc277
http://europepmc.org/articles/PMC5753299
http://europepmc.org/articles/PMC5753299
Autor:
Barbara Robbertse, Patrick Masterson, Jinna Choi, Sanjida H. Rangwala, Vyacheslav Brover, Olga Blinkova, Stacy Ciufo, Kim D. Pruitt, Conrad L. Schoch, Daniel H. Haft, Kelly M. McGarvey, Richard McVeigh, Raymond E. Tully, Bhanu Rajput, Alexander Astashyn, Vinita Joardar, Wratko Hlavina, Vamsi K. Kodali, Kathleen O'Neill, Danso Ako-adjei, Hanzhen Sun, Craig Wallin, Mathew W. Wright, Michael DiCuccio, Daniel Rausch, Catherine M. Farrell, Susan S. Storz, Avi Kimchi, Terence Murphy, Tripti Gupta, Eneida L. Hatcher, Donna Maglott, Shashikant Pujar, Brian Smith-White, David Webb, Nuala A. O'Leary, Wenjun Li, Michael R. Murphy, Igor Tolstoy, Françoise Thibaud-Nissen, Diana Haddad, Olga Ermolaeva, Azat Badretdin, Andrei Shkeda, Lillian D. Riddick, Tatiana Tatusova, Wendy Wu, Melissa J. Landrum, Vyacheslav Chetvernin, Tamara Goldfarb, Anjana R. Vatsan, Paul Kitts, J. Rodney Brister, Yiming Bao, Eric Cox
Publikováno v:
Nucleic Acids Research
The RefSeq project at the National Center for Biotechnology Information (NCBI) maintains and curates a publicly available database of annotated genomic, transcript, and protein sequence records (http://www.ncbi.nlm.nih.gov/refseq/). The RefSeq projec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fa63f34080e34e61b5a99d6a1c2b83d
Autor:
Guangfeng Song, Kim D. Pruitt, Dakshesh Darji, J. Rodney Brister, Kenneth S. Katz, Craig Wallin, William Fu, Danso Ako-adjei, Roger G. Ptak
Publikováno v:
Nucleic Acids Research
The ‘Human Immunodeficiency Virus Type 1 (HIV-1), Human Interaction Database’, available through the National Library of Medicine at http://www.ncbi.nlm.nih.gov/genome/viruses/ retroviruses/hiv-1/interactions, serves the scientific community expl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::076fbf24b88dfac65cb71090f87c354b
http://europepmc.org/articles/PMC4383939
http://europepmc.org/articles/PMC4383939
Autor:
Michael Ovetsky, Brandi L. Kattman, Kathy L. Hudson, Malheiro Aj, Viatcheslav Gorelenkov, Guangfeng Song, Wonhee Jang, Kenneth S. Katz, Mikhail Denisenko, Wendy S. Rubinstein, Craig Wallin, Mark D. Johnson, Fedor Karmanov, Shanmuga Chitipiralla, Nora Husain, James Ostell, Douglas W. Hoffman, Jennifer M. Lee, Vichet Hem, Alexander Ukrainchik, Donna Maglott, Cathy Fomous
Publikováno v:
Nucleic Acids Research
The National Institutes of Health Genetic Testing Registry (GTR; available online at http://www.ncbi.nlm.nih.gov/gtr/) maintains comprehensive information about testing offered worldwide for disorders with a genetic basis. Information is voluntarily
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45278e2fee87d7c01ef830833eecfdfd
https://doi.org/10.1093/nar/gks1173
https://doi.org/10.1093/nar/gks1173
Autor:
Kim D. Pruitt, Terence Murphy, Donna Maglott, Kenneth S. Katz, Igor Tolstoy, Michael Ovetsky, Vichet Hem, Tatiana Tatusova, Garth Brown, Olga Ermolaeva, Craig Wallin
Publikováno v:
Nucleic Acids Research
The National Center for Biotechnology Information's (NCBI) Gene database (www.ncbi.nlm.nih.gov/gene) integrates gene-specific information from multiple data sources. NCBI Reference Sequence (RefSeq) genomes for viruses, prokaryotes and eukaryotes are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6df9307b3cfafe194b17ae1a0e558ef0
https://pubmed.ncbi.nlm.nih.gov/25355515
https://pubmed.ncbi.nlm.nih.gov/25355515
Autor:
Catherine Snow, Robert Baertsch, Marie-Marthe Suner, Shashikant Pujar, Susan M. Hiatt, Toby Hunt, Tim Hubbard, José M. González, Wendy Wu, Lillian D. Riddick, Kim D. Pruitt, M. Kay, Janet Weber, David Haussler, Garth Brown, Nuala A. O'Leary, Adam Frankish, Jennifer Harrow, James G. R. Gilbert, Bronwen Aken, Ruth Bennett, Jeena Rajan, Andrei Shkeda, Jonathan M. Mudge, Laurens G. Wilming, Stephen J. Trevanion, Kelly M. McGarvey, Pamela Tamez, Jennifer Hart, Mark Diekhans, Stephen M. J. Searle, James Ostell, Bhanu Rajput, Rachel A. Harte, Craig Wallin, Michael R. Murphy, Mark G. Thomas, Charles A. Steward, Jane E. Loveland, Catherine M. Farrell, Sanjida H. Rangwala, Daniel Barrell, David Webb
Publikováno v:
Nucleic Acids Research
Nucleic acids research, vol 42, iss Database issue
Europe PubMed Central
Nucleic acids research, vol 42, iss Database issue
Europe PubMed Central
The Consensus Coding Sequence (CCDS) project (http://www.ncbi.nlm.nih.gov/CCDS/) is a collaborative effort to maintain a dataset of protein-coding regions that are identically annotated on the human and mouse reference genome assemblies by the Nation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da6021ec661ab2f93e222547170d758
https://pubmed.ncbi.nlm.nih.gov/24217909
https://pubmed.ncbi.nlm.nih.gov/24217909
Autor:
Malheiro Aj, Brandi L. Kattman, Kenneth S. Katz, Vichet Hem, Guangfeng Song, Craig Wallin, Wendy S. Rubinstein, Baoshan Gu, Michael Ovetsky, Jennifer M. Lee, Donna Maglott, Ricardo Villamarin-Salomon
Publikováno v:
Journal of Clinical Oncology. 34:e13120-e13120
e13120Background: Genetic testing of tumors and germlines has proliferated in oncology, as gauged by ASCO’s meeting topics and the medical literature. A quantitative appraisal of orderable genetic ...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c57d76c794ec377b37d8710f97c180aa
https://doi.org/10.1200/jco.2016.34.15_suppl.e13120
https://doi.org/10.1200/jco.2016.34.15_suppl.e13120
Autor:
Oksana Dukhanina, Barbara J. Ruef, Janet Weber, Craig Wallin, Michael DiCuccio, Robert Baertsch, Manolis Kellis, Bronwen Aken, Joshua L. Cherry, Clara Amid, Marie-Marthe Suner, Andrew Shkeda, Julio Fernandez-Banet, Sarah Ayling, Donna Maglott, Elizabeth M. Hart, Steve Searle, Michael R. Murphy, Ewan Birney, James Ostell, Laurens G. Wilming, Bhanu Rajput, Jennifer Harrow, Jeena Rajan, Mark Diekhans, Catherine M. Farrell, Richard Durbin, David J. Lipman, Adam Frankish, Jennifer Hart, Bonnie L. Maidak, Terence Murphy, Jonathan M. Mudge, Kim D. Pruitt, Michael Schuster, Melissa J. Landrum, Wenyu Wu, Catherine E. Snow, Garth Brown, Tim Hubbard, Rachel A. Harte, Jennifer M. Lee, Jane E. Loveland, Michael F. Lin, Charles A. Steward, David Haussler, David Webb, Lillian D. Riddick, Val Curwen
Publikováno v:
Genome Research
Effective use of the human and mouse genomes requires reliable identification of genes and their products. Although multiple public resources provide annotation, different methods are used that can result in similar but not identical representation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e43c69b9001469c75bb506ddecfe6b6
http://hdl.handle.net/1721.1/72151
http://hdl.handle.net/1721.1/72151
