Inge Søkilde Pedersen

Combining genome-wide polygenic scores with registry data for colorectal cancer risk-based screening

This study evaluates polygenic risk scores (PRS) for colorectal cancer (CRC) screening, showing they stratify risk independently of ancestry and sex but offer limited additional predictive value when combined with FIT.

Microflora Danica: the atlas of Danish environmental microbiomes

Microflora Danica compiles 10,686 shotgun metagenomes and 449 rRNA datasets to create an atlas of Danish environmental microbiomes, revealing hidden homogeneity and novel nitrifiers.

Benchmarking homologous recombination deficiency algorithms for prediction of clinical outcome in ovarian cancer

This study benchmarks three HRD detection algorithms in ovarian cancer patients, finding all showed significant association with improved progression-free survival, while BRCA1/2 mutations did not.

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel

The paper refines ACMG/AMP variant classification criteria for BRCA1 and BRCA2 by calibrating evidence strength and improving classification consistency through expert panel review.