Article

Variant Scientists in Genomic Medicine: Survey of Demographics, Training, Duties, and Professional Development

2025-01-29

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> Genomic testing has proven utility in disease diagnostics, guiding clinical management and improving outcomes. Use of high throughput sequencing by clinical laboratories has generated opportunities and challenges in data analysis resulting in the emergence of a laboratory role termed Variant Scientist. The aim of this study was to characterize this laboratory role. <h4>Methods</h...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 3b78ef55-0cb0-5b96-8aef-f3be590476dd
DOI: 10.1101/2025.01.28.25321277

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variant Scientists in Genomic Medicine: Survey of Demographics, Training, Duties, and Professional DevelopmentDOI 10.1101/2025.01.28.25321277Read

Educational Framework to Strengthen the Variant Scientist Workforce in Clinical GenomicsSemantic proximity Read

Workforce Development in Genomic Data Science for Health: A WorldviewSemantic proximity Read

The role of NHS genomic associates, assistants, and practitioners in England: Demographics, career plans and challenges facedSemantic proximity Read

Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretationSemantic proximity Read

Who defines the “personal utility” of genetic and genomic testing? A systematic reviewSemantic proximity Read

Practice-Based Insights into Adult Genetics: High Diagnostic Yield, Demographic Determinants, and Patterns of Test Utilization in Over 7,000 PatientsSemantic proximity Read

Recommendations for the ethical and accurate use of population descriptors: a trainee-led survey of early-career researchersSemantic proximity Read

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping reviewSemantic proximity Read

Strategic Development of the Genetic Counselor Profession in Germany, Austria, and Switzerland: The Establishment of the <scp>GfH</scp> Genetic Counselor CommissionSemantic proximity Read

Elective genomic sequencing for adults in research, clinical and commercial contextsSemantic proximity Read

ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International PlatformSemantic proximity Read

The evolving role of genetic counselors in South Africa: A decade of growthSemantic proximity Read