Komal S. Rathi

The paper analyzes splicing in 729 pediatric brain tumors, identifies splicing-defined subgroups, and highlights CLK1 exon 4 as an oncofetal event linked to tumor prognosis.

The paper introduces OpenPedCan, a harmonized multi-omic dataset of pediatric cancer patients, providing integrated genomic, transcriptomic, and proteomic data for research and clinical applications.

OpenPBTA provides a collaborative platform to genomically characterize 1,074 pediatric brain tumors and 22 cell lines, offering analysis modules and somatic datasets for research and clinical applications.

The paper identifies a mitochondrial haplogroup mutation interacting with a HDC variant to cause mitochondrial dysfunction and connective tissue disorder.

The paper describes a standardized RNA-Seq pipeline for spaceflight data, enabling reproducible analysis of gene expression changes in astronauts and organisms exposed to spaceflight.

annoFuse filters and prioritizes oncogenic gene fusions from RNA-Seq data, improving identification of clinically relevant fusions in cancer datasets.

This study identifies somatic structural variations in neuroblastoma, showing their enrichment in neurodevelopmental genes and the tumor suppressor role of SHANK2.

The paper demonstrates that RNA-seq of B lymphoblastoid cell lines can effectively diagnose neurodevelopmental disorders, including Cornelia de Lange syndrome, with high sensitivity.

This paper genomically characterizes 261 pediatric cancer patient-derived xenograft models to guide rational clinical trial design and drug development.