The sequence of the human genome JC Venter, MD Adams, EW Myers, PW Li, RJ Mural, GG Sutton, HO Smith, ... science 291 (5507), 1304-1351, 2001 | 20569 | 2001 |
The OBO Foundry: coordinated evolution of ontologies to support biomedical data integration B Smith, M Ashburner, C Rosse, J Bard, W Bug, W Ceusters, LJ Goldberg, ... Nature biotechnology 25 (11), 1251-1255, 2007 | 3095 | 2007 |
The Sequence Ontology: a tool for the unification of genome annotations K Eilbeck, SE Lewis, CJ Mungall, M Yandell, L Stein, R Durbin, ... Genome biology 6, 1-12, 2005 | 970 | 2005 |
The gene ontology (GO) project in 2006 Gene Ontology Consortium Nucleic acids research 34 (suppl_1), D322-D326, 2006 | 847 | 2006 |
The gene ontology project in 2008 Gene Ontology Consortium Nucleic acids research 36 (suppl_1), D440-D444, 2008 | 645 | 2008 |
The Gene Ontology in 2010: extensions and refinements Gene Ontology Consortium Nucleic acids research 38 (suppl_1), D331-D335, 2010 | 478 | 2010 |
Settling the score: variant prioritization and Mendelian disease K Eilbeck, A Quinlan, M Yandell Nature Reviews Genetics 18 (10), 599-612, 2017 | 274 | 2017 |
miRNA nomenclature: a view incorporating genetic origins, biosynthetic pathways, and sequence variants T Desvignes, P Batzel, E Berezikov, K Eilbeck, JT Eppig, MS McAndrews, ... Trends in Genetics 31 (11), 613-626, 2015 | 238 | 2015 |
Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families MV Singleton, SL Guthery, KV Voelkerding, K Chen, B Kennedy, ... The American Journal of Human Genetics 94 (4), 599-610, 2014 | 214 | 2014 |
Unbiased detection of respiratory viruses by use of RNA sequencing-based metagenomics: a systematic comparison to a commercial PCR panel EH Graf, KE Simmon, KD Tardif, W Hymas, S Flygare, K Eilbeck, ... Journal of clinical microbiology 54 (4), 1000-1007, 2016 | 212 | 2016 |
Taxonomer: an interactive metagenomics analysis portal for universal pathogen detection and host mRNA expression profiling S Flygare, K Simmon, C Miller, Y Qiao, B Kennedy, T Di Sera, EH Graf, ... Genome biology 17, 1-18, 2016 | 190 | 2016 |
GA4GH: International policies and standards for data sharing across genomic research and healthcare HL Rehm, AJH Page, L Smith, JB Adams, G Alterovitz, LJ Babb, ... Cell genomics 1 (2), 2021 | 178 | 2021 |
Conceptual modelling of genomic information NW Paton, SA Khan, A Hayes, F Moussouni, A Brass, K Eilbeck, ... Bioinformatics 16 (6), 548-557, 2000 | 174 | 2000 |
Quantitative measures for the management and comparison of annotated genomes K Eilbeck, B Moore, C Holt, M Yandell BMC bioinformatics 10, 1-15, 2009 | 164 | 2009 |
Leontis N, Rocca-Serra P, Ruttenberg A, Sansone SA, Scheuermann RH, Shah N, Whetzel PL, Lewis S: The OBO foundry: coordinated evolution of ontologies to support biomedical data … B Smith, M Ashburner, C Rosse, J Bard, W Bug, W Ceusters, LJ Goldberg, ... Nature Biotechnology 25 (11), 1251-1255, 2007 | 163 | 2007 |
Redefining fundamental concepts of transcription initiation in bacteria C Mejía-Almonte, SJW Busby, JT Wade, J van Helden, AP Arkin, ... Nature Reviews Genetics 21 (11), 699-714, 2020 | 130 | 2020 |
The gene ontology project in 2008 MA Harris, JI Deegan, A Ireland, J Lomax, M Ashburner, S Tweedie, ... Nucleic Acids Research 36 (SUPPL. 1), D440-D444, 2008 | 128 | 2008 |
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 126 | 2014 |
ClinVar miner: demonstrating utility of a web‐based tool for viewing and filtering ClinVar data A Henrie, SE Hemphill, N Ruiz‐Schultz, B Cushman, MT DiStefano, ... Human mutation 39 (8), 1051-1060, 2018 | 107 | 2018 |
A standard variation file format for human genome sequences MG Reese, B Moore, C Batchelor, F Salas, F Cunningham, GT Marth, ... Genome biology 11, 1-9, 2010 | 107 | 2010 |