Author

Sorina Maciuca

Genomics England

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

Click to filter author papers

Bioinformatics· 1 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:statistical model· 3 Assay:whole-genome sequencing· 3 Organism:human· 2 Organism:plant (other)· 2 Research Focus:variant calling· 2 Approach:deep learning· 1 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Zamin IqbaliD· 2 shared Agnieszka Dobrowolska· 1 shared Alice Del Vecchio· 1 shared Andrew AnighoroiD· 1 shared Avelino Javer· 1 shared Brice LetcheriD· 1 shared Cameron Field· 1 shared Carlos del Ojo Elias· 1 shared

Activity by Year

2016-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 23 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenomics

Zamin IqbalORCID

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

A DNA foundation model predicts osteoporosis risk genes without proximity bias

Cristian Regep, Chantriolnt-Andreas Kapourani, Emre Sofyalı, Agnieszka Dobrowolska, Giannis Loukas, Andrew Anighoro, Eleonora Canale, Torsten Gross, Marco P. Licciardello, Revant Gupta, Sorina Maciuca, Tariq Desai, Alice Del Vecchio, Cameron Field, Karl Gemayel, , Lindsay Edwards

Rosalind, a DNA foundation model, predicts variant-gene regulatory relationships without proximity bias, identifying distal genes as more impactful in osteoporosis.

bioRxiv · Mar 12, 2026 · PreprintGenetics

Gene conversion drives allelic dimorphism in two paralogous surface antigens of the malaria parasite P. falciparum

Brice Letcher, Sorina Maciuca, Zamin Iqbal

bioRxiv · Feb 27, 2023 · PreprintGenomics

A natural encoding of genetic variation in a Burrows-Wheeler Transform to enable mapping and genome inference

Sorina Maciuca, Carlos del Ojo Elias, Gil McVean, Zamin Iqbal

This paper encodes genetic variation into a Burrows-Wheeler Transform to improve genome inference and mapping by incorporating known variation into a generalized reference genome.

bioRxiv · Jul 25, 2016 · PreprintBioinformatics