Mikhail A. Moldovan

The paper estimates mutation rates and variant effects using 700k exomes to identify genes with mutational hotspots and improve variant prioritization for genetic diagnostics.

gnomAD v4 (730,947 exomes) brings LOFTEE-2 loss-of-function annotation (0.90 precision, strict mode), missense-aware constraint, and LLM-mined literature evidence combined with constraint to rank disease genes.

The paper identifies genes with hypermutable de novo mutations as potential drivers of clonal expansions in spermatogonia, highlighting their impact on mutation rates and disease associations.

The paper presents a joint genomic analysis of UDN patients using whole genome sequencing and new statistical methods to prioritize disease genes, revealing new disease associations and releasing a software tool for cohort analysis.

The paper identifies three types of A-to-I editing site clusters in cephalopods and describes structural features and mechanisms underlying their formation.

The paper identifies phospho-islands in mammals and shows they have distinct evolutionary and functional properties compared to individual phosphosites.