Journal articles

2024Cancer Discovery

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

2024eLife

High-density sampling reveals volume growth in human tumours

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

2024PLOS Comput. Biol.

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.

2024J. Exp. Clin. Cancer Res.

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.

2023Cell Systems

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

2020Nature Communications

Germline de novo mutation rates on exons versus introns in humans

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

Prior journal articles

2020Nature Genetics

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

2019Molecular Biology and Evolution

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

2019Nature Genetics

Weghorn Lab

Preprints

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

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

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

Journal articles

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

High-density sampling reveals volume growth in human tumours

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

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

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

Germline de novo mutation rates on exons versus introns in humans

Prior journal articles

Identification of cancer driver genes based on nucleotide context

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

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

Bayesian inference of negative and positive selection in human cancers

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

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

Fitness landscape for nucleosome positioning