Elaine R. Mardis

This study shows that supplementing alpha-ketoglutarate (aKG) improves T cell function and immunotherapy effectiveness in NSCLC by reversing epigenetic changes associated with T cell exhaustion.

This study uses optical genome mapping to detect somatic structural variants in epilepsy brain tissue, revealing variants missed by short-read sequencing and providing insights into their mechanisms.

The paper identifies somatic RAS-MAPK pathway activating variants in hippocampal sclerosis patients, linking them to seizure-induced injury and suggesting therapeutic targets.

This study characterizes myeloid sarcoma through multi-omic profiling, identifies RAS pathway activation as a hallmark, and shows RAS inhibition reduces tumor burden in mouse models.

This study shows NR0B1 alters the 9-cis-retinoic acid response in Ewing Sarcoma cells by modulating nuclear receptor activity, suggesting NR0B1 inhibition could enhance retinoid therapy.

PEDIA-BRAIN provides a single nuclei multiomic resource of the human pons across development, revealing oligodendrocyte maturation trajectories and disease-related perturbations in DMG and MS.

The paper uses single nuclei RNA sequencing to identify replication stress and DNA damage response in adrenocortical carcinoma, suggesting ATR as a potential therapeutic target.

This study shows trabectedin enhances oncolytic virotherapy by reducing anti-viral barriers and boosting immune-mediated tumor regression in preclinical models.

SNVstory infers sub-continental ancestry using machine learning models and evaluates its accuracy against self-reported ethnicity and race in a clinical dataset.

The paper identifies somatic and germline genetic variations in brain tissue from children with epilepsy-associated developmental lesions, highlighting new candidate genes and structural variations.

The paper develops an ensemble fusion-calling pipeline to improve the detection of clinically relevant gene fusions in pediatric cancer, identifying 67 fusions with a 29.3% diagnostic yield.

The paper describes the evolution of the CIViC knowledgebase to meet the needs of the cancer variant interpretation community by expanding its functionality and data types.

pVACtools provides a suite of tools for neoantigen prediction, prioritization, and vaccine design in cancer immunotherapy.

Samovar calls mosaic SNVs in single samples using linked-read data with accuracy comparable to trio or tumor/normal pair analyses.

The paper identifies somatic mutations with prognostic effects in ER+ breast cancer using genomic data from multiple cohorts.

This study explores factors influencing response and resistance to atezolizumab in urothelial cancer using multi-omic data, finding associations between TCR clonality and clinical outcomes.