Article
Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants.
The Journal of molecular diagnostics : JMD - 1 Nov 2018
DiStefano Marina T, Hemphill Sarah E, Cushman Brandon J, Bowser Mark J, Hynes Elizabeth, Grant Andrew R, Siegert Rebecca K, Oza Andrea M, Gonzalez Michael A, Amr Sami S, Rehm Heidi L, Abou Tayoun Ahmad N
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.