Population-scale pharmacogenomic variation in 41,000 Nordic exomes
Allele frequency reconstruction for CYP2D6, CYP2C19, DPYD and 200+ pharmacogenes across 12 sub-populations.
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Publications
Publications
Peer-reviewed research produced with or on the Serapis platform.
Rapid WGS in critically ill neonates: a multi-site implementation study
Median 68-hour turnaround across 4 NICUs, with 31% of cases receiving a molecular diagnosis.
Read abstractMachine-assisted ACMG classification reduces curator variance
Inter-curator concordance improved from 0.71 to 0.93 with structured evidence prompts.
Read abstractHRD signature implementation for PARP inhibitor eligibility
Clinical validation of a scar-based HRD score across ovarian, breast and pancreatic cancers.
Read abstractContainer-pinned Nextflow pipelines for clinical genomics
Reproducibility guarantees through digest-level pinning and cryptographically signed runs.
Read abstractFounder effect mapping in isolated Nordic communities
Novel rare disease genes discovered through haplotype-based analysis in 8 isolated cohorts.
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