Peter White

Identification of Long Non-coding RNA Candidate Disease Genes Associated with Clinically Reported CNVs in Congenital Heart Disease

This study identifies lncRNA candidate genes associated with CNVs in CHD patients, revealing their significant role in heart development and disease.

NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates

NeoGx uses machine learning on EHR data to predict which NICU infants need genetic evaluation by 18 months, improving the timing and efficiency of genetic testing.

SNVstory: A dockerized algorithm for rapid and accurate inference of sub-continental ancestry

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

Detection of brain somatic variation in epilepsy-associated developmental lesions

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.

Discovery of Clinically Relevant Fusions in Pediatric Cancer

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.

Pioneer activity of an oncogenic fusion transcription factor at inaccessible chromatin

This study investigates the chromatin-binding properties of the oncogenic PAX3-FOXO1 fusion protein using pc-ChIP-seq, revealing its pioneer function at repressed chromatin in RMS cells.

Global Analysis of Human mRNA Folding Disruptions in Synonymous Variants Demonstrates Significant Population Constraint

The paper analyzes mRNA folding disruptions caused by synonymous variants and finds population-level constraints, introducing a Structural Predictivity Index to assess pathogenic potential.

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy

The paper identifies a novel recessive frameshift variant in MYL2 causing severe infantile-onset HCM and shows molecular differences between recessive and dominant MYL2 variants.

Samovar: Single-sample mosaic SNV calling with linked reads

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

HOTAIR primes the Ewing sarcoma family of tumors for tumorigenesis via epigenetic dysregulation involving LSD1

This study shows HOTAIR supports Ewing sarcoma tumor growth by altering epigenetic regulation through interaction with LSD1, enabling cell survival despite EWS-FLI1 toxicity.