Denny Popp

SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human Genome

SyMetrics evaluates the pathogenicity of synonymous variants using a machine learning model that integrates multiple predictors, achieving high accuracy in distinguishing deleterious from benign variants.

The Refined Recurrence Risk of De Novo variants Due to Parental Mosaicism

The paper assesses parental mosaicism in families with de novo variants, finding 4.4% parental mosaicism and proposing amplicon-based sequencing for improved recurrence risk assessment.

Detecting Monogenic Obesity: A Systematic Exome-Wide Workup of Over 500 Individuals

This study evaluates the diagnostic yield of monogenic obesity in 521 patients using exome-wide data, finding 5.8% with monogenic obesity and 7.1% with potentially obesogenic variants.

Incorporating Nanopore Sequencing into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti

The paper uses nanopore sequencing to accurately phase a heterozygous deletion in the IKBKG gene in an IP family, confirming its location and X-inactivation status.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

The paper identifies monoallelic DHX9 variants as a cause of neurodevelopmental disorders and Charcot-Marie-Tooth disease, showing genotype-phenotype correlations and cellular dysfunction.