Jennefer N. Carter

MetaDome now supports GRCh38 alongside GRCh37, adds coordinate lookup, and identifies 52,463 GRCh38 ClinVar missense variants of uncertain significance with uncontradicted pathogenic evidence at homologous Pfam-domain positions.

This study shows cardiovascular genetic counseling improves patient empowerment and reduces worry, with benefits varying by patient characteristics and the strength of the counselor-patient relationship.

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

This paper optimizes variant prioritization parameters for Exomiser and Genomiser to improve diagnostic yield in rare disease cases using WES and WGS data.

An LLM agent with a literature-mined environment of 150 tools, 105 packages and 59 databases plans in code, matching reported human accuracy on database and sequence question answering.

This study identifies de novo KDM2A variants as a cause of a syndromic neurodevelopmental disorder with specific clinical features and functional consequences.

The paper develops criteria for identifying, sharing, and reporting novel candidate genes in clinical genomic testing to improve diagnostic yield for Mendelian conditions.

The paper explores researchers' perspectives on returning multi-omics results to participants in the MoTrPAC study, highlighting both support and concerns about ethical, logistical, and communication challenges.

The paper applies complete long read sequencing to undiagnosed patients, identifying a 16kb intragenic duplication in EHMT1 causing Kleefstra syndrome.