Insights on improving accessibility and usability of functional data to unlock its potential for variant interpretation.

ABSTRACT:

Introduction

Variant-level functional data is a core component of clinical variant classification and can aid in reinterpreting variants of uncertain significance (VUS). However, the usage of functional data by genetics professionals is currently unknown.

Methods

An online survey was developed and distributed in spring of 2024 to individuals actively engaged in variant interpretation. Quantitative and qualitative methods were used to assess responses.

Results

190 eligible individuals responded, with 93% reporting interpreting 26 or more variants per year. The median respondent reported 11-20 years of experience. The most common professional roles were laboratory medical geneticists (23%) and variant review scientists (23%). 77% reported using functional data for varia

SUBMITTER: Park MS 

PROVIDER: S-EPMC11838987 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature