Raphaela Pensch
Assistant with doctoral duties at Department of Medical Biochemistry and Microbiology; Genetics and Genomics; Kerstin Lindblad-Toh
- E-mail:
- raphaela.pensch@imbim.uu.se
- Visiting address:
- BMC
Husargatan 3
752 37 UPPSALA - Postal address:
- Box 582
751 23 UPPSALA
- E-mail:
- raphaela.pensch@imbim.uu.se
- Visiting address:
- Dag Hammarskjölds väg 20
751 85 Uppsala - Postal address:
- Rudbecklaboratoriet
751 85 UPPSALA
- CV:
- Download CV
Short presentation
I am a PhD student in the Lindblad-Toh lab and I use computational analyses of large-scale whole-genome sequencing to study the role of non-coding mutations in cancer. I work with many different cancers in this context, but mainly focus on human glioblastoma and canine and human osteosarcoma.
Find me on LinkedIn, Bluesky and my personal website.
Keywords
- cancer genomics
- bioinformatics
- osteosarcoma
- glioblastoma
- canine cancer

Publications
Recent publications
-
Part of Neuro-Oncology Advances, 2026
- DOI for Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Download full text (pdf) of Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
-
Part of Scientific Reports, 2025
- DOI for Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Download full text (pdf) of Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
-
Sugar beet long-read reference assembly of genotype KWS2320
Part of NAR Genomics and Bioinformatics, 2025
- DOI for Sugar beet long-read reference assembly of genotype KWS2320
- Download full text (pdf) of Sugar beet long-read reference assembly of genotype KWS2320
-
Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Part of Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI for Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Download full text (pdf) of Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
All publications
Articles in journal
-
Part of Neuro-Oncology Advances, 2026
- DOI for Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Download full text (pdf) of Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
-
Part of Scientific Reports, 2025
- DOI for Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Download full text (pdf) of Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
-
Sugar beet long-read reference assembly of genotype KWS2320
Part of NAR Genomics and Bioinformatics, 2025
- DOI for Sugar beet long-read reference assembly of genotype KWS2320
- Download full text (pdf) of Sugar beet long-read reference assembly of genotype KWS2320
-
Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Part of Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI for Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Download full text (pdf) of Using evolutionary constraint to define novel candidate driver genes in medulloblastoma