Prathitha Kar

Inference of elevated mutation rates and variant effects using 700k exomes

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

Integrating 730,947 exome sequences with clinical literature improves gene discovery

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.

Hotspots of human mutation point to clonal expansions in spermatogonia

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.

Are cell length and volume interchangeable in cell cycle analysis?

The paper investigates whether cell length and volume can be used interchangeably in cell cycle analysis and finds they can be, due to small cell width fluctuations.

Length regulation of multiple flagella that self-assemble from a shared pool of components

The paper develops a model of flagellar length control in Chlamydomonas reinhardtii, showing that a limiting pool of IFT proteins leads to an inverse growth-rate-length relationship and identifies coupling mechanisms that enable simultaneous length control.