Article

Calibration of in-frame indel variant effect predictors for clinical variant classification

2026-04-18

Abstract excerpt

Insertions and deletions (indels) represent a substantial source of genetic variation in humans and are associated with a diverse array of functional consequences. Despite their prevalence and clinical importance, indels, particularly short in-frame indels, remain critically understudied compared to single nucleotide variants and are challenging to interpret clinically. While many computational predictors for miss...

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Literature Corpus work: 9a46bdf0-163b-528f-9de3-4a96ef2ed7ad
DOI: 10.64898/2026.04.15.718599

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