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...

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Foilsithe in:J Mol Diagn
Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Investigative Pathology 2018
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Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6204605/
https://ncbi.nlm.nih.gov/pubmed/30096381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jmoldx.2018.06.005
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