Raphaela Pensch
Assistent med doktoranduppgifter vid Institutionen för medicinsk biokemi och mikrobiologi; Genetik och Genomik; Kerstin Lindblad-Toh
- E-post:
- raphaela.pensch@imbim.uu.se
- Besöksadress:
- BMC
Husargatan 3
752 37 UPPSALA - Postadress:
- Box 582
751 23 UPPSALA
- E-post:
- raphaela.pensch@imbim.uu.se
- Besöksadress:
- Dag Hammarskjölds väg 20
751 85 Uppsala - Postadress:
- Rudbecklaboratoriet
751 85 UPPSALA
- CV:
- Ladda ned CV
Kort 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.
Nyckelord
- cancer genomics
- bioinformatics
- osteosarcoma
- glioblastoma
- canine cancer
Publikationer
Senaste publikationer
-
2026
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Ingår i Neuro-Oncology Advances, 2026
- DOI för Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Ladda ner fulltext (pdf) av Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
-
Ingår i Scientific Reports, 2025
- DOI för Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Ladda ner fulltext (pdf) av 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
Ingår i NAR Genomics and Bioinformatics, 2025
- DOI för Sugar beet long-read reference assembly of genotype KWS2320
- Ladda ner fulltext (pdf) av Sugar beet long-read reference assembly of genotype KWS2320
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Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Ladda ner fulltext (pdf) av Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Alla publikationer
Artiklar i tidskrift
-
Ingår i Neuro-Oncology Advances, 2026
- DOI för Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
- Ladda ner fulltext (pdf) av Rare germline variants contribute to glioma predisposition: Whole-genome analysis of a regional cohort of glioma patients
-
Ingår i Scientific Reports, 2025
- DOI för Characterization of the genomic landscape of canine diffuse large B-cell lymphoma reveals recurrent H3K27M mutations linked to progression-free survival
- Ladda ner fulltext (pdf) av 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
Ingår i NAR Genomics and Bioinformatics, 2025
- DOI för Sugar beet long-read reference assembly of genotype KWS2320
- Ladda ner fulltext (pdf) av Sugar beet long-read reference assembly of genotype KWS2320
-
Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
Ingår i Proceedings of the National Academy of Sciences of the United States of America, 2023
- DOI för Using evolutionary constraint to define novel candidate driver genes in medulloblastoma
- Ladda ner fulltext (pdf) av Using evolutionary constraint to define novel candidate driver genes in medulloblastoma