| Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program D Taliun, DN Harris, MD Kessler, J Carlson, ZA Szpiech, R Torres, ... Nature 590 (7845), 290-299, 2021 | 1733 | 2021 |
| Detection of a recurrent DNAJB1-PRKACA chimeric transcript in fibrolamellar hepatocellular carcinoma JN Honeyman, EP Simon, N Robine, R Chiaroni-Clarke, DG Darcy, ... Science 343 (6174), 1010-1014, 2014 | 519 | 2014 |
| Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions AR Brannon, E Vakiani, BE Sylvester, SN Scott, G McDermott, RH Shah, ... Genome biology 15, 1-10, 2014 | 386 | 2014 |
| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu, SA Haas, J Chelly, H Van Esch, M Raynaud, APM de Brouwer, ... Molecular psychiatry 21 (1), 133-148, 2016 | 323 | 2016 |
| Whole-exome sequencing of metastatic cancer and biomarkers of treatment response H Beltran, K Eng, JM Mosquera, A Sigaras, A Romanel, H Rennert, ... JAMA oncology 1 (4), 466-474, 2015 | 321 | 2015 |
| Human papillomavirus and the landscape of secondary genetic alterations in oral cancers ML Gillison, K Akagi, W Xiao, B Jiang, RKL Pickard, J Li, BJ Swanson, ... Genome research 29 (1), 1-17, 2019 | 220 | 2019 |
| Distinct classes of complex structural variation uncovered across thousands of cancer genome graphs K Hadi, X Yao, JM Behr, A Deshpande, C Xanthopoulakis, H Tian, ... Cell 183 (1), 197-210. e32, 2020 | 213 | 2020 |
| RazerS—fast read mapping with sensitivity control D Weese, AK Emde, T Rausch, A Döring, K Reinert Genome research 19 (9), 1646-1654, 2009 | 210 | 2009 |
| Genome-wide somatic variant calling using localized colored de Bruijn graphs G Narzisi, A Corvelo, K Arora, EA Bergmann, M Shah, R Musunuri, ... Communications biology 1 (1), 20, 2018 | 117 | 2018 |
| Genetic mechanisms of primary chemotherapy resistance in pediatric acute myeloid leukemia NA McNeer, J Philip, H Geiger, RE Ries, VP Lavallee, M Walsh, M Shah, ... Leukemia 33 (8), 1934-1943, 2019 | 115 | 2019 |
| A novel and well-defined benchmarking method for second generation read mapping M Holtgrewe, AK Emde, D Weese, K Reinert BMC bioinformatics 12, 1-10, 2011 | 104 | 2011 |
| PGBD5 promotes site-specific oncogenic mutations in human tumors AG Henssen, R Koche, J Zhuang, E Jiang, C Reed, A Eisenberg, E Still, ... Nature genetics 49 (7), 1005-1014, 2017 | 101 | 2017 |
| NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium D Taliun, DN Harris, MD Kessler, J Carlson, ZA Szpiech, R Torres, ... Sequencing of 53, 290-299, 2021 | 94 | 2021 |
| Segment-based multiple sequence alignment T Rausch, AK Emde, D Weese, A Döring, C Notredame, K Reinert Bioinformatics 24 (16), i187-i192, 2008 | 80 | 2008 |
| Detecting genomic indel variants with exact breakpoints in single-and paired-end sequencing data using SplazerS AK Emde, MH Schulz, D Weese, R Sun, M Vingron, VM Kalscheuer, ... Bioinformatics 28 (5), 619-627, 2012 | 79 | 2012 |
| Disease variants in genomes of 44 centenarians Y Freudenberg‐Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, ... Molecular genetics & genomic medicine 2 (5), 438-450, 2014 | 71 | 2014 |
| Gustaf: Detecting and correctly classifying SVs in the NGS twilight zone K Trappe, AK Emde, HC Ehrlich, K Reinert Bioinformatics 30 (24), 3484-3490, 2014 | 69 | 2014 |
| A consistency-based consensus algorithm for de novo and reference-guided sequence assembly of short reads T Rausch, S Koren, G Denisov, D Weese, AK Emde, A Döring, K Reinert Bioinformatics 25 (9), 1118-1124, 2009 | 54 | 2009 |
| Next-generation rapid autopsies enable tumor evolution tracking and generation of preclinical models DJ Pisapia, S Salvatore, C Pauli, E Hissong, K Eng, D Prandi, VW Sailer, ... JCO precision oncology 1, 1-13, 2017 | 53 | 2017 |
| MicroRazerS: rapid alignment of small RNA reads AK Emde, M Grunert, D Weese, K Reinert, SR Sperling Bioinformatics 26 (1), 123-124, 2010 | 52 | 2010 |
