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Settling the score: variant prioritization and Mendelian disease K Eilbeck, A Quinlan, M Yandell Nature Reviews Genetics 18 (10), 599-612, 2017 | 136 | 2017 |
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 | 135 | 2014 |
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 | 122 | 2015 |
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), 1-18, 2016 | 112 | 2016 |
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 | 103 | 2016 |
Quantitative measures for the management and comparison of annotated genomes K Eilbeck, B Moore, C Holt, M Yandell BMC bioinformatics 10 (1), 1-15, 2009 | 101 | 2009 |
A standard variation file format for human genome sequences MG Reese, B Moore, C Batchelor, F Salas, F Cunningham, GT Marth, ... Genome biology 11 (8), 1-9, 2010 | 94 | 2010 |
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