Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

Variant interpretation depends on accurate annotations using biologically relevant transcripts. We have developed a systematic strategy for designating primary transcripts and have applied it to 109 hearing loss–associated genes that were divided into three categories. Category 1 genes (n？=？38) had a single transcript; category 2 genes (n？=？33) had multiple transcripts, but a single transcript was sufficient to represent all exons; and category 3 genes (n？=？38) had multiple transcripts with unique exons.