| The Genome Sequence of Drosophila melanogaster MD Adams, SE Celniker, RA Holt, CA Evans, JD Gocayne, ... Science 287 (5461), 2185-2195, 2000 | 8196 | 2000 |
| Improved splice site detection in Genie MG Reese, FH Eeckman, D Kulp, D Haussler Proceedings of the first annual international conference on Computational …, 1997 | 2070 | 1997 |
| Application of a time-delay neural network to promoter annotation in the Drosophila melanogaster genome MG Reese Computers & chemistry 26 (1), 51-56, 2001 | 1078 | 2001 |
| Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding KJ McKernan, HE Peckham, GL Costa, SF McLaughlin, Y Fu, EF Tsung, ... Genome research 19 (9), 1527-1541, 2009 | 803 | 2009 |
| Assuring the quality of next-generation sequencing in clinical laboratory practice AS Gargis, L Kalman, MW Berry, DP Bick, DP Dimmock, T Hambuch, F Lu, ... Nature biotechnology 30 (11), 1033-1036, 2012 | 503 | 2012 |
| 100,000 genomes pilot on rare-disease diagnosis in health care—preliminary report 100,000 Genomes Project Pilot Investigators New England Journal of Medicine 385 (20), 1868-1880, 2021 | 371 | 2021 |
| EGASP: the human ENCODE genome annotation assessment project R Guigó, P Flicek, JF Abril, A Reymond, J Lagarde, F Denoeud, ... Genome biology 7, 1-31, 2006 | 343 | 2006 |
| An exploration of the sequence of a 2.9-Mb region of the genome of Drosophila melanogaster: the Adh region M Ashburner, S Misra, J Roote, SE Lewis, R Blazej, T Davis, C Doyle, ... Genetics 153 (1), 179-219, 1999 | 312 | 1999 |
| Genome annotation assessment in Drosophila melanogaster MG Reese, G Hartzell, NL Harris, U Ohler, JF Abril, SE Lewis Genome research 10 (4), 483-501, 2000 | 289 | 2000 |
| A probabilistic disease-gene finder for personal genomes M Yandell, C Huff, H Hu, M Singleton, B Moore, J Xing, LB Jorde, ... Genome research 21 (9), 1529-1542, 2011 | 257 | 2011 |
| Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins, ... Science translational medicine 11 (489), eaat6177, 2019 | 245 | 2019 |
| Genie—gene finding in Drosophila melanogaster MG Reese, D Kulp, H Tammana, D Haussler Genome Research 10 (4), 529-538, 2000 | 233 | 2000 |
| 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 | 206 | 2014 |
| Large scale sequencing specific neural networks for promoter and splice site recognition MG Reese, NL Harris, FH Eeckman Biocomputing: Proceedings of the 1996 pacific symposium, 737-738, 1996 | 191 | 1996 |
| VAAST 2.0: Improved variant classification and disease‐gene identification using a conservation‐controlled amino acid substitution matrix H Hu, CD Huff, B Moore, S Flygare, MG Reese, M Yandell Genetic epidemiology 37 (6), 622-634, 2013 | 171 | 2013 |
| Interpolated markov chains for eukaryotic promoter recognition. U Ohler, S Harbeck, H Niemann, E Nö th, MG Reese Bioinformatics (Oxford, England) 15 (5), 362-369, 1999 | 144 | 1999 |
| Annotating eukaryote genomes S Lewis, M Ashburner, MG Reese Current opinion in structural biology 10 (3), 349-354, 2000 | 127 | 2000 |
| Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation JM Kidd, S Gravel, J Byrnes, A Moreno-Estrada, S Musharoff, K Bryc, ... The American Journal of Human Genetics 91 (4), 660-671, 2012 | 123 | 2012 |
| Novel neural network algorithms for improved eukaryotic promoter site recognition MG Reese, FH Eeckman The Seventh International Genome Sequencing and Analysis Conference, Hilton …, 1995 | 122 | 1995 |
| 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 | 121 | 2014 |
