The genotype-tissue expression (GTEx) project J Lonsdale, J Thomas, M Salvatore, R Phillips, E Lo, S Shad, R Hasz, ... Nature genetics 45 (6), 580-585, 2013 | 7874 | 2013 |
The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium, KG Ardlie, DS Deluca, AV Segrè, TJ Sullivan, ... Science 348 (6235), 648-660, 2015 | 4683 | 2015 |
Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3402 | 2017 |
Transcriptome and genome sequencing uncovers functional variation in humans T Lappalainen, M Sammeth, MR Friedländer, PAC ‘t Hoen, J Monlong, ... Nature 501 (7468), 506-511, 2013 | 2080 | 2013 |
The human transcriptome across tissues and individuals M Melé, PG Ferreira, F Reverter, DS DeLuca, J Monlong, M Sammeth, ... Science 348 (6235), 660-665, 2015 | 1334 | 2015 |
Dynamic landscape and regulation of RNA editing in mammals MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ... Nature 550 (7675), 249-254, 2017 | 561 | 2017 |
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus W Yang, N Shen, DQ Ye, Q Liu, Y Zhang, XX Qian, N Hirankarn, D Ying, ... PLoS genetics 6 (2), e1000841, 2010 | 459 | 2010 |
A draft human pangenome reference WW Liao, M Asri, J Ebler, D Doerr, M Haukness, G Hickey, S Lu, JK Lucas, ... Nature 617 (7960), 312-324, 2023 | 423 | 2023 |
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ... The American Journal of Human Genetics 101 (5), 664-685, 2017 | 422 | 2017 |
Nanopore sequencing and the Shasta toolkit enable efficient de novo assembly of eleven human genomes K Shafin, T Pesout, R Lorig-Roach, M Haukness, HE Olsen, C Bosworth, ... Nature biotechnology 38 (9), 1044-1053, 2020 | 415 | 2020 |
Single-cell RNA-seq reveals that glioblastoma recapitulates a normal neurodevelopmental hierarchy CP Couturier, S Ayyadhury, PU Le, J Nadaf, J Monlong, G Riva, R Allache, ... Nature communications 11 (1), 3406, 2020 | 413 | 2020 |
Effect of predicted protein-truncating genetic variants on the human transcriptome MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ... Science 348 (6235), 666-669, 2015 | 352 | 2015 |
Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition B Rodriguez-Martin, EG Alvarez, A Baez-Ortega, J Zamora, F Supek, ... Nature genetics 52 (3), 306-319, 2020 | 345 | 2020 |
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories PAC 't Hoen, MR Friedländer, J Almlöf, M Sammeth, I Pulyakhina, ... Nature biotechnology 31 (11), 1015-1022, 2013 | 272 | 2013 |
Transcriptome characterization by RNA sequencing identifies a major molecular and clinical subdivision in chronic lymphocytic leukemia PG Ferreira, P Jares, D Rico, G Gómez-López, A Martínez-Trillos, ... Genome research 24 (2), 212-226, 2014 | 252 | 2014 |
Stalled developmental programs at the root of pediatric brain tumors S Jessa, A Blanchet-Cohen, B Krug, M Vladoiu, M Coutelier, D Faury, ... Nature genetics 51 (12), 1702-1713, 2019 | 209 | 2019 |
Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases J Yang, T Huang, F Petralia, Q Long, B Zhang, C Argmann, Y Zhao, ... Scientific reports 5 (1), 1-16, 2015 | 207 | 2015 |
Genotyping structural variants in pangenome graphs using the vg toolkit G Hickey, D Heller, J Monlong, JA Sibbesen, J Sirén, J Eizenga, ... Genome biology 21, 1-17, 2020 | 194 | 2020 |
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes J Sirén, J Monlong, X Chang, AM Novak, JM Eizenga, C Markello, ... Science 374 (6574), abg8871, 2021 | 180 | 2021 |
Co-expression networks reveal the tissue-specific regulation of transcription and splicing A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ... Genome research 27 (11), 1843-1858, 2017 | 174 | 2017 |