Jonathan S. Berg

The paper calibrates three new computational tools for clinical variant classification, finding they provide evidence strength comparable to previously recommended tools.

The paper curates 111 gene-disease relationships for syndromic disorders, classifying their clinical validity and identifying gaps in knowledge.

This paper describes the co-creation of public health educational materials and dissemination plans to improve genetic literacy and equity in genomics research and practice.

The paper assesses rare missense variants in genome sequences using PP3/BP4 evidence strength classifications and finds few variants meet strong or moderate criteria.

This paper standardizes terminology for describing disease-gene relationships to improve variant classification and genetic test interpretation.

The paper calibrates computational tools for missense variant pathogenicity classification and provides evidence-based revisions to PP3/BP4 ACMG/AMP criteria.

The paper finds that rare copy number variants (CNVs) are more common in treatment-resistant psychosis patients compared to a general schizophrenia cohort, with duplications at 15q11.2-q13.1 and 16p11.2 linked to treatment resistance.

This study reviews the cost and clinical utility of whole exome sequencing (WES) and whole genome sequencing (WGS) in pediatric genetic disease diagnosis, finding limited evidence of WGS superiority over WES in changing clinical management.

The paper describes the formation of the Gene Curation Coalition to standardize gene-disease validity terminology and create a unified database for curated gene-disease assertions.

The paper introduces the ClinGen Variant Curation Interface, a platform for applying ACMG/AMP guidelines to classify genetic variants, enabling collaboration and standardization in clinical variant interpretation.

This paper reviews economic evaluations of genetic screening/testing for monogenic disorders, finding variability in methodological quality and opportunities for improvement.

The paper functionally analyzes PALB2 missense variants to improve clinical variant interpretation by providing evidence for pathogenic or benign classifications.

The paper evaluates exome sequencing in newborn screening, finding high diagnostic yield for metabolic disorders but limited actionable results for hearing loss and identifying carrier status variants.

This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.

The paper provides structured recommendations for applying the PS3/BS3 functional evidence criteria in variant interpretation using the ACMG/AMP framework, including a four-step framework and minimum control requirements.

The paper evaluates how ClinGen Variant Curation Expert Panels (VCEPs) use functional assay evidence in variant classification, finding variability in assay selection and validation parameters.

The paper presents a framework to evaluate the clinical validity of gene-disease associations, validated using representative gene-disease pairs.