Samuel Koller

This study evaluates adaptive sampling for resolving complex blood group variants using long-read sequencing, identifying novel alleles and hybrid haplotypes in RH and MNS systems.

The paper uses bulk and single-cell RNA sequencing to study Norrin's role in retinal neurogenesis, finding altered gene expression and cell composition in NDP knockout retinal organoids.

SwissGenVar is a platform for sharing and interpreting genetic variants to improve clinical decision-making in Switzerland by harmonizing variant significance assessment and integrating clinical data.

This study develops a long-range PCR-based NGS protocol for diagnosing Mendelian retinal diseases, achieving high sensitivity and expanding coverage to non-coding regions.