Chad A. Shaw

The paper develops a model to predict NMD outcomes for protein-truncating variants using RNA-seq data, achieving ~78% ROC-AUC and identifying non-canonical determinants.

The paper introduces the Probability of Necessity (PN) to assess genetic diagnosis, showing it differs from penetrance and can resolve variant classification ambiguity in diseases like ischemic heart disease and Parkinson's.

This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.

The paper introduces the Causal Pivot (CP) method to detect causal genetic variants in complex diseases using structural causal models and applies it to UK Biobank data for three diseases.

The paper investigates how pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics by altering protein structure and function.

This study identifies nervous system requirements for Alzheimer's disease risk genes in Drosophila by analyzing gene function and neurodegeneration.

The paper analyzes the Turkish population's variome to understand its impact on rare disease traits, finding that long ROHs and inbreeding contribute to recessive diseases.

This study evaluates clinical genome sequencing (GS) over three years at a children's hospital, finding a 35% diagnostic yield and frequent misordering, with higher yields in patients without prior exome sequencing.

The paper demonstrates that recurrent genomic deletions mediated by nonallelic homologous recombination drive recessive disease burden and identifies new disease-contributing variants through exome reanalysis.

This study performs genome sequencing in Parkinson's disease patients and finds genetic variants in 3.4% for LRRK2 and 10.1% for GBA, with 82% of patients willing to share variants with relatives.

The paper identifies cancer genes by analyzing NMD escape bias in somatic mutations from The Cancer Genome Atlas, finding 29 genes with significant NMD- rates.

Consultagene provides a virtual platform for genetic care, counseling, and education, adapting to pandemic challenges and expanding access to genetic services.

The paper develops a Bayesian framework for analyzing NGS functionalization screens and introduces the malacoda R package to improve variant function analysis.

The paper combines exome sequencing and array-based comparative genomic hybridization to identify genetic risk factors in familial Parkinson’s disease, finding novel SNVs and CNVs.

The paper identifies functional variants regulating CD36 expression using MPRA and confirms their impact on platelet function and cardiovascular disease risk.