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 | 617 | 2023 |
Building pangenome graphs E Garrison, A Guarracino, S Heumos, F Villani, Z Bao, L Tattini, ... Nature Methods, 1-5, 2024 | 98 | 2024 |
Recombination between heterologous human acrocentric chromosomes A Guarracino, S Buonaiuto, LG de Lima, T Potapova, A Rhie, S Koren, ... Nature 617 (7960), 335-343, 2023 | 76 | 2023 |
Increased mutation and gene conversion within human segmental duplications MR Vollger, PC Dishuck, WT Harvey, WS DeWitt, X Guitart, ME Goldberg, ... Nature 617 (7960), 325-334, 2023 | 63 | 2023 |
Efficient dynamic variation graphs JM Eizenga, AM Novak, E Kobayashi, F Villani, C Cisar, S Heumos, ... Bioinformatics 36 (21), 5139-5144, 2020 | 39 | 2020 |
Gaps and complex structurally variant loci in phased genome assemblies D Porubsky, MR Vollger, WT Harvey, AN Rozanski, P Ebert, G Hickey, ... Genome research 33 (4), 496-510, 2023 | 30 | 2023 |
Private and sub-family specific mutations of founder haplotypes in the BXD family reveal phenotypic consequences relevant to health and disease DG Ashbrook, T Sasani, M Maksimov, MH Gunturkun, N Ma, F Villani, ... bioRxiv, 2022.04. 21.489063, 2022 | 15 | 2022 |
A revamped rat reference genome improves the discovery of genetic diversity in laboratory rats TV de Jong, Y Pan, P Rastas, D Munro, M Tutaj, H Akil, C Benner, D Chen, ... Cell Genomics 4 (4), 2024 | 9 | 2024 |
A novel quantitative trait locus implicates Msh3 in the propensity for genome-wide short tandem repeat expansions in mice MO Maksimov, C Wu, DG Ashbrook, F Villani, V Colonna, N Mousavi, ... Genome research 33 (5), 689-702, 2023 | 9 | 2023 |
A global analysis of conservative and non-conservative mutations in SARS-CoV-2 detected in the first year of the COVID-19 world-wide diffusion N Balasco, G Damaggio, L Esposito, F Villani, R Berisio, V Colonna, ... Scientific Reports 11 (1), 24495, 2021 | 8 | 2021 |
Pan-conserved segment tags identify ultra-conserved sequences across assemblies in the human pangenome HJ Lee, SU Greer, DS Pavlichin, B Zhou, AE Urban, T Weissman, ... Cell Reports Methods 3 (8), 2023 | 5 | 2023 |
Pangenome reconstruction in rats enhances genotype-phenotype mapping and novel variant discovery F Villani, A Guarracino, RR Ward, T Green, M Emms, M Pravenec, P Prins, ... bioRxiv, 2024 | 2 | 2024 |
Pleiotropic influence of DNA methylation QTLs on physiological and ageing traits K Mozhui, H Kim, F Villani, A Haghani, S Sen, S Horvath Epigenetics 18 (1), 2252631, 2023 | 2 | 2023 |
SVJAM: Joint Analysis of Structural Variants Using Linked Read Sequencing Data MH Gunturkun, F Villani, V Colonna, D Ashbrook, RW Williams, H Chen bioRxiv, 2021.11. 02.467006, 2021 | 2 | 2021 |
Pangenome reconstruction in rats enhances genotype-phenotype mapping and variant discovery F Villani, A Guarracino, RR Ward, T Green, M Emms, M Pravenec, ... iScience, 2025 | | 2025 |
Creating a biomedical knowledge base by addressing GPT inaccurate responses and benchmarking context SS Darnell, RW Overall, A Guarracino, V Colonna, F Villani, E Garrison, ... bioRxiv, 2024 | | 2024 |
Genetic Modulation of Protein Expression in Rat Brain L Li, Z Wu, A Guarracino, F Villani, D Kong, A Mancieri, A Zhang, L Saba, ... bioRxiv, 2024.02. 17.580840, 2024 | | 2024 |