This paper develops an electronic decision aid tool to help ovarian cancer patients choose the most appropriate multigene panel for genetic testing, based on their preferences and priorities.

4 citations

humanelectronic health records

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Genetic & Genomic MedicineGenetics in Medicine OpenPeer-reviewedJan 1, 2023

A Pooled Electronic Consultation Program to Improve Access to Genetics Specialists

Emma K. Folkerts, Renée C. Pelletier, Daniel C. Chung…·Leland E. Hull

A pooled electronic consultation program improved access to genetics specialists by triaging 153 requests and providing actionable recommendations in 3.2 days on average.

8 citations

electronic health recordsexperimental assay

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedAug 29, 2022

Sequencing of over 100,000 individuals identifies multiple genes and rare variants associated with Crohns disease susceptibility

Aleksejs Sazonovs, Christine R. Stevens, Guhan Ram Venkataraman…·Rasha Shawky

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

197 citationstop 1%

humanwhole-exome sequencing

𝕏 PostBluesky