GENCODE reference annotation for the human and mouse genomes A Frankish, M Diekhans, AM Ferreira, R Johnson, I Jungreis, J Loveland, ... Nucleic acids research 47 (D1), D766-D773, 2019 | 2965 | 2019 |
The complete sequence of a human genome S Nurk, S Koren, A Rhie, M Rautiainen, AV Bzikadze, A Mikheenko, ... Science 376 (6588), 44-53, 2022 | 2573 | 2022 |
Nanopore sequencing and assembly of a human genome with ultra-long reads M Jain, S Koren, KH Miga, J Quick, AC Rand, TA Sasani, JR Tyson, ... Nature biotechnology 36 (4), 338-345, 2018 | 2034 | 2018 |
GENCODE 2021 A Frankish, M Diekhans, I Jungreis, J Lagarde, JE Loveland, JM Mudge, ... Nucleic acids research 49 (D1), D916-D923, 2021 | 1069 | 2021 |
Improved data analysis for the MinION nanopore sequencer M Jain, IT Fiddes, KH Miga, HE Olsen, B Paten, M Akeson Nature methods 12 (4), 351-356, 2015 | 819 | 2015 |
Comprehensive molecular characterization of pheochromocytoma and paraganglioma L Fishbein, I Leshchiner, V Walter, L Danilova, AG Robertson, ... Cancer cell 31 (2), 181-193, 2017 | 717 | 2017 |
Human-specific NOTCH2NL genes affect notch signaling and cortical neurogenesis IT Fiddes, GA Lodewijk, M Mooring, CM Bosworth, AD Ewing, ... Cell 173 (6), 1356-1369. e22, 2018 | 533 | 2018 |
Establishing cerebral organoids as models of human-specific brain evolution AA Pollen, A Bhaduri, MG Andrews, TJ Nowakowski, OS Meyerson, ... Cell 176 (4), 743-756. e17, 2019 | 532 | 2019 |
The UCSC genome browser database: 2018 update J Casper, AS Zweig, C Villarreal, C Tyner, ML Speir, KR Rosenbloom, ... Nucleic acids research 46 (D1), D762-D769, 2018 | 521 | 2018 |
Progressive Cactus is a multiple-genome aligner for the thousand-genome era J Armstrong, G Hickey, M Diekhans, IT Fiddes, AM Novak, A Deran, ... Nature 587 (7833), 246-251, 2020 | 424 | 2020 |
High-resolution comparative analysis of great ape genomes ZN Kronenberg, IT Fiddes, D Gordon, S Murali, S Cantsilieris, ... Science 360 (6393), eaar6343, 2018 | 389 | 2018 |
Long-read sequence assembly of the gorilla genome D Gordon, J Huddleston, MJP Chaisson, CM Hill, ZN Kronenberg, ... Science 352 (6281), aae0344, 2016 | 349 | 2016 |
Combinatorial single-cell CRISPR screens by direct guide RNA capture and targeted sequencing JM Replogle, TM Norman, A Xu, JA Hussmann, J Chen, JZ Cogan, ... Nature biotechnology 38 (8), 954-961, 2020 | 343 | 2020 |
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 | 331 | 2020 |
A comparative genomics multitool for scientific discovery and conservation Nature 587 (7833), 240-245, 2020 | 295 | 2020 |
Improved reference genome for the domestic horse increases assembly contiguity and composition TS Kalbfleisch, ES Rice, MS DePriest Jr, BP Walenz, MS Hestand, ... Communications biology 1 (1), 197, 2018 | 253 | 2018 |
Resolving the full spectrum of human genome variation using Linked-Reads P Marks, S Garcia, AM Barrio, K Belhocine, J Bernate, R Bharadwaj, ... Genome research 29 (4), 635-645, 2019 | 237 | 2019 |
Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci J Lilue, AG Doran, IT Fiddes, M Abrudan, J Armstrong, R Bennett, ... Nature genetics 50 (11), 1574-1583, 2018 | 229 | 2018 |
A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing AA Petti, SR Williams, CA Miller, IT Fiddes, SN Srivatsan, DY Chen, ... Nature communications 10 (1), 3660, 2019 | 216 | 2019 |
Cloche is a bHLH-PAS transcription factor that drives haemato-vascular specification S Reischauer, OA Stone, A Villasenor, N Chi, SW Jin, M Martin, MT Lee, ... Nature 535 (7611), 294-298, 2016 | 161 | 2016 |