A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing

Rare genetic disorders frequently remain undiagnosed despite the use of exome sequencing (ES) and genome sequencing (GS). This study aimed to enhance diagnostic yield by introducing a systematic framework: SMART filtering (Systematic, Multi-step, Automated, Rare variant prioritization Tool), designed to optimize GS analysis, with a particular emphasis on non-coding regions. We retrospectively analyzed 153 cases with previously negative ES and GS results. SMART filtering was applied as a pre-annotation filtering step, integrating conservation metrics, allele frequency thresholds, and splicing p

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