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Genomics and Disease Risk

Curation and Prioritization for Clinical Variants

Development or improvement of methods, approaches and tools to predict, curate, interpret and/or prioritize clinically relevant genes and variants.

Mendelian, Undiagnosed and Rare Disease Genomics

Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.

Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.

Development of experimental, diagnostic and analytical strategies to identify and functionally characterize genetic variants or other genomic features that underlie a broad range of rare and undiagnosed diseases and Mendelian phenotypes.

Argenia Doss, Ph.D.
Email: argenia.doss@nih.gov

Pharmacogenomics

Investigation of the impact of genomic variants on response to drug treatment in diverse populations; establishment and implementation of pharmacogenomic-based drug dosing guidelines; and production of evidence-based resources for clinical applications of pharmacogenomics.

Investigation of the impact of genomic variants on response to drug treatment in diverse populations; establishment and implementation of pharmacogenomic-based drug dosing guidelines; and production of evidence-based resources for clinical applications of pharmacogenomics.

Clinical Sequencing

Genomic Sequencing and Discovery, Including Sequencing Technology and Clinical Workflows

Identification of populations, settings and other factors that will benefit from clinical sequencing, establishment of workflows to reduce turnaround time and/or resources, and use of genome sequencing technologies to identify potential pathogenic or functional variants for clinical use.

Identification of populations, settings and other factors that will benefit from clinical sequencing, establishment of workflows to reduce turnaround time and/or resources, and use of genome sequencing technologies to identify potential pathogenic or functional variants for clinical use.

Perinatal Sequencing and Gene Expression

Use of genome and transcriptome sequencing in the perinatal period of human development to understand the role of gene expression and associated regulatory patterns and to provide insights into disease processes.

Last updated: April 21, 2022