Applications of artificial intelligence in clinical laboratory genomics

Author:

Aradhya Swaroop12ORCID,Facio Flavia M.1ORCID,Metz Hillery1ORCID,Manders Toby1,Colavin Alexandre1ORCID,Kobayashi Yuya1ORCID,Nykamp Keith1ORCID,Johnson Britt1ORCID,Nussbaum Robert L.13ORCID

Affiliation:

1. Invitae Corporation San Francisco California USA

2. Adjunct Clinical Faculty, Department of Pathology Stanford University School of Medicine Stanford California USA

3. Volunteer Faculty, School of Medicine University of California San Francisco San Francisco California USA

Abstract

AbstractThe transition from analog to digital technologies in clinical laboratory genomics is ushering in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly analyze those data using conventional approaches. Accurately evaluating complex molecular data to facilitate timely diagnosis and management of genomic disorders will require supportive artificial intelligence methods. These are already being introduced into clinical laboratory genomics to identify variants in DNA sequencing data, predict the effects of DNA variants on protein structure and function to inform clinical interpretation of pathogenicity, link phenotype ontologies to genetic variants identified through exome or genome sequencing to help clinicians reach diagnostic answers faster, correlate genomic data with tumor staging and treatment approaches, utilize natural language processing to identify critical published medical literature during analysis of genomic data, and use interactive chatbots to identify individuals who qualify for genetic testing or to provide pre‐test and post‐test education. With careful and ethical development and validation of artificial intelligence for clinical laboratory genomics, these advances are expected to significantly enhance the abilities of geneticists to translate complex data into clearly synthesized information for clinicians to use in managing the care of their patients at scale.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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