Manavalan Gajapathy

The paper identifies germline and somatic genetic variants and molecular signatures in placental chorangiomas from monochorionic twins, linking them to hypoxia, angiogenesis, and oxidative stress.

The paper evaluates variant prioritization methods for rare disease diagnosis using data from the Rare Genomes Project, finding that top models identify causal variants in most solved families and uncover potential candidates in unsolved ones.

QuaC automates and standardizes QC for genome and exome sequencing data by integrating tools, setting thresholds, and generating comprehensive reports.

VarSight uses binary classification algorithms to prioritize clinically reported variants in rare disease patients, outperforming existing methods in identifying pathogenic variants.

This paper identifies pathogenic structural variants in rare disease patients using whole genome sequencing and reports their clinical relevance.