| Mind the gap: upgrading genomes with Pacific Biosciences RS long-read sequencing technology AC English, S Richards, Y Han, M Wang, V Vee, J Qu, X Qin, DM Muzny, ... PloS one 7 (11), e47768, 2012 | 1029 | 2012 |
| The somatic genomic landscape of chromophobe renal cell carcinoma CF Davis, CJ Ricketts, M Wang, L Yang, AD Cherniack, H Shen, C Buhay, ... Cancer cell 26 (3), 319-330, 2014 | 807 | 2014 |
| Finding the missing honey bee genes: lessons learned from a genome upgrade CG Elsik, KC Worley, AK Bennett, M Beye, F Camara, CP Childers, ... BMC genomics 15, 1-29, 2014 | 430 | 2014 |
| A robust benchmark for detection of germline large deletions and insertions JM Zook, NF Hansen, ND Olson, L Chapman, JC Mullikin, C Xiao, ... Nature biotechnology 38 (11), 1347-1355, 2020 | 273 | 2020 |
| Launching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline JG Reid, A Carroll, N Veeraraghavan, M Dahdouli, A Sundquist, A English, ... BMC bioinformatics 15, 1-11, 2014 | 246 | 2014 |
| Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects AA Regier, Y Farjoun, DE Larson, O Krasheninina, HM Kang, ... Nature communications 9 (1), 4038, 2018 | 186 | 2018 |
| PBHoney: identifying genomic variants via long-read discordance and interrupted mapping AC English, WJ Salerno, JG Reid BMC bioinformatics 15, 1-7, 2014 | 170 | 2014 |
| Assessing structural variation in a personal genome—towards a human reference diploid genome AC English, WJ Salerno, OA Hampton, C Gonzaga-Jauregui, S Ambreth, ... BMC genomics 16, 1-15, 2015 | 159 | 2015 |
| PacBio-LITS: a large-insert targeted sequencing method for characterization of human disease-associated chromosomal structural variations M Wang, CR Beck, AC English, Q Meng, C Buhay, Y Han, ... BMC genomics 16, 1-12, 2015 | 79 | 2015 |
| Improved annotation of the insect vector of citrus greening disease: biocuration by a diverse genomics community S Saha, PS Hosmani, K Villalobos-Ayala, S Miller, T Shippy, M Flores, ... Database 2017, bax032, 2017 | 73 | 2017 |
| Sooty mangabey genome sequence provides insight into AIDS resistance in a natural SIV host D Palesch, SE Bosinger, GK Tharp, TH Vanderford, M Paiardini, ... Nature 553 (7686), 77-81, 2018 | 72 | 2018 |
| Truvari: refined structural variant comparison preserves allelic diversity AC English, VK Menon, RA Gibbs, GA Metcalf, FJ Sedlazeck Genome Biology 23 (1), 271, 2022 | 69 | 2022 |
| A robust benchmark for germline structural variant detection JM Zook, NF Hansen, ND Olson, LM Chapman, JC Mullikin, C Xiao, ... BioRxiv, 664623, 2019 | 67 | 2019 |
| Megabase length hypermutation accompanies human structural variation at 17p11. 2 CR Beck, CMB Carvalho, ZC Akdemir, FJ Sedlazeck, X Song, Q Meng, ... Cell 176 (6), 1310-1324. e10, 2019 | 65 | 2019 |
| Prevalence of alternative splicing choices in Arabidopsis thaliana AC English, KS Patel, AE Loraine BMC plant biology 10, 1-17, 2010 | 44 | 2010 |
| A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease X Zhang, C Zhu, G Beecham, BN Vardarajan, Y Ma, D Lancour, JJ Farrell, ... Alzheimer's & Dementia 15 (3), 441-452, 2019 | 38 | 2019 |
| xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments J Farek, D Hughes, W Salerno, Y Zhu, A Pisupati, A Mansfield, ... GigaScience 12, giac125, 2023 | 31 | 2023 |
| Human genome meeting 2016: houston, TX, USA. 28 February-2 March 2016 AK Srivastava, Y Wang, R Huang, C Skinner, T Thompson, L Pollard, ... Human genomics 10, 1-40, 2016 | 17 | 2016 |
| Improved annotation of the insect vector of citrus greening disease: biocuration by a diverse genomics community S Saha, PS Hosmani, K Villalobos-Ayala, S Miller, T Shippy, M Flores, ... Database 2019, baz035, 2019 | 10 | 2019 |
| SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads OA Hampton, AC English, M Wang, WJ Salerno, Y Liu, DM Muzny, Y Han, ... BMC genomics 18, 31-36, 2017 | 10 | 2017 |
Kim C. WorleyProfessor, Baylor College of MedicineVerified email at bcm.edu
