Papers & preprints
Selected publications
MetaGLIMPSE: Meta-imputation of low-coverage sequencing data for modern and ancient genomes
Kumar KH, Rubinacci S, Zӧllner S
Am. J. Hum. Genet. 113, 472–482
Insights into DNA repeat expansions among 900,000 biobank participants
Hujoel MLA, Handsaker RE, Tang D, Kamitaki N, Mukamel RE, Rubinacci S, Palamara PF, McCarroll SA, Loh P-R
Nature 650, 920–929
Pharmacogenomic architecture of antihypertensive switching implicates neurotensin-NTSR1 signaling in ACE inhibitor-induced cough
Vaura F, Krebs K, Kiiskinen T, Rämö J, Tamlander M, FinnGen, Estonian Biobank research team, Rubinacci S, Milani L, Ripatti S
medRxiv 2026.01.26.26344813
Parent-of-origin effects on complex traits in up to 236,781 individuals
Hofmeister RJ, Cavinato T, Karimi R, van der Graaf A, Pajuste F-D, Kronberg J, Taba N, Estonian Biobank research team, Mägi R, Vaudel M, Rubinacci S, Johansson S, Milani L, Delaneau O, Kutalik Z
Nature 646, 647–656
Patterns and drivers of 43,617 mosaic chromosomal alterations in blood
Tang D, Kamitaki N, Mukamel RE, Rubinacci S, Loh P-R
medRxiv 2025.07.30.25332451
Noncoding rare variant associations with blood traits in 166,740 UK Biobank genomes
Ribeiro DM, Hofmeister R, Rubinacci S, Delaneau O
Nat. Genet. 57, 2146–2155
A Genomics England haplotype reference panel and imputation of UK Biobank
Shi S, Rubinacci S, Hu S, Moutsianas L, Stuckey A, Need AC, Palamara PF, Caulfield M, Marchini J, Myers S
Nat. Genet. 56, 1800–1803
Imputation of low-coverage sequencing data from 150,119 UK Biobank genomes
Rubinacci S, Hofmeister RJ, Sousa da Mota B, Delaneau O
Nature Genetics
Accurate rare variant phasing of whole-genome and whole-exome sequencing data in the UK Biobank
Hofmeister RJ, Ribeiro DM, Rubinacci S, Delaneau O
Nature Genetics
Imputation of ancient human genomes
Sousa da Mota B, Rubinacci S, Cruz Dávalos DI, G Amorim CE, Sikora M, Johannsen NN, Szmyt MH, Włodarczak P, Szczepanek A, Przybyła MM, Schroeder H, Allentoft ME, Willerslev E, Malaspinas A-S, Delaneau O
Nat. Commun. 14, 3660
Efficient phasing and imputation of low-coverage sequencing data using large reference panels
Rubinacci S, Ribeiro DM, Hofmeister RJ, Delaneau O
Nature Genetics 53, 120–126
Genotype imputation using the Positional Burrows Wheeler Transform
Rubinacci S, Delaneau O, Marchini J
PLOS Genetics 16(11): e1009049
The molecular basis, genetic control and pleiotropic effects of local gene co-expression
Ribeiro D, Rubinacci S, Ramisch A, Hofmeister R, Dermitzakis E, Delaneau O
Nat. Commun. 12, 4842
Full publication list available on ORCID.