Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses.

Kelly SchochQueenie K-G TanNicholas StongKristen L DeakAllyn McConkie-RosellMarie T McDonaldnull nullDavid B GoldsteinYong-Hui JiangVandana Shashi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

These examples illustrate the importance of considering alternative transcripts as a potential confounder when genetic results are negative or discordant with the phenotype.

Keyphrases

human health
risk assessment
gene expression