Weghorn Lab

Dissecting DNA-mismatch-repair-driven mutational processes in human cells

Owusu, M., Menche, J., Loizou, J. and Weghorn, D.

Mutational signature decomposition with deep neural networks reveals origins of clock-like processes and hypoxia dependencies

Serrano Colomé*, C., Canal Anton*, O., Seplyarskiy, V. and Weghorn, D.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness

Loay, H., Kar, P., Koch, E., Seplyarskiy, V. and Weghorn, D.

Transcription start sites experience a high influx of heritable variants fueled by early development

Cortés Guzmán*, M., Castellano*, D., Serrano Colomé*, C., Seplyarskiy, V. and Weghorn, D.

Explainer video on Evolution Soup.

Convergent genetic adaptation in human tumors developed under systemic hypoxia and in populations living at high altitudes

Arenillas, C., ..., Weghorn, D., Robledo, M., Casteràs, A., Dos-Subirà, L., Adameyko, I., María-Dolores, C., Dahia, P.L.M. and Toledo, R. bioRxiv

High-density sampling reveals volume growth in human tumours

Angaji, A., Owusu, M., Velling, C., Dick, N., Weghorn^†, D. and Berg^†, J.

An extension of the Walsh-Hadamard transform to calculate and model epistasis in genetic landscapes of arbitrary shape and complexity

Faure, A., Lehner, B., Miró Pina, V., Serrano Colomé, C. and Weghorn, D.

The TP53-activated E3 ligase RNF144B is a tumour suppressor that prevents genomic instability

Abad, E., Sandoz, J., Romero, G., Urgel-Solas, J., Borredat, P., Kourtis, S., Ortet, L., Martinez, C., Weghorn, D., Sdelci, S. and Janic, A.

Genes enriched in A/T-ending codons are co-regulated and conserved across mammals

Benisty, H., Hernandez-Alias, X., Weber, M., Anglada-Girotto, M., Mantica, F., Radusky, L., Senger, G., Calvet, F., Weghorn, D., Irimia, M., Schaefer, M. and Serrano, L. bioRxiv

Germline de novo mutation rates on exons versus introns in humans

Rodríguez-Galindo, M., Casillas, S., Weghorn^†, D. and Barbadilla^†, A.

Identification of cancer driver genes based on nucleotide context

Dietlein*, F., Weghorn*, D., Taylor-Weiner, A., Richters, A., Reardon, B., Liu, D., Lander, E. S., Van Allen, E. M. and Sunyaev, S. R. bioRxiv

Applicability of the mutation-selection balance model to population genetics of heterozygous protein-truncating variants in humans

Weghorn*, D., Balick*, D. J., Cassa, C., Kosmicki, J., Daly, M. J., Beier, D. R. and Sunyaev, S. R. bioRxiv

REPLY TO 'Selective effects of heterozygous protein-truncating variants'

Cassa*, C. A., Weghorn*, D., Balick*, D. J., Jordan*, D. M., Nusinow, D., Samocha, K. E., O'Donnell-Luria, A., MacArthur, D. G., Daly, M. J., Beier, D. R. and Sunyaev, S. R.

Bayesian inference of negative and positive selection in human cancers

Weghorn, D. and Sunyaev, S. SharedIt

Identifying DNase I hypersensitive sites as driver distal regulatory elements in breast cancer

D'Antonio*, M., Weghorn*, D., D'Antonio-Chronowska, A., Coulet, F., Olson, K. M., DeBoever, C., Drees, F., Arias, A., Alakus, H., Richardson, A. L., Schwab, R. B., Farley, E. K., Sunyaev, S. R. and Frazer, K. A.

Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Cassa*, C. A., Weghorn*, D., Balick*, D. J., Jordan*, D. M., Nusinow, D., Samocha, K. E., O'Donnell-Luria, A., MacArthur, D. G., Daly, M. J., Beier, D. R. and Sunyaev, S. R. PMC

Fitness landscape for nucleosome positioning

Weghorn, D. and Lässig, M.