Ontology highlight
ABSTRACT:
SUBMITTER: Schoch K
PROVIDER: S-EPMC7335342 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Schoch Kelly K Tan Queenie K-G QK Stong Nicholas N Deak Kristen L KL McConkie-Rosell Allyn A McDonald Marie T MT Goldstein David B DB Jiang Yong-Hui YH Shashi Vandana V
Genetics in medicine : official journal of the American College of Medical Genetics 20200505 7
<h4>Purpose</h4>Guidelines by professional organizations for assessing variant pathogenicity include the recommendation to utilize biologically relevant transcripts; however, there is variability in transcript selection by laboratories.<h4>Methods</h4>We describe three patients whose genomic results were incorrect, because alternative transcripts and tissue expression patterns were not considered by the commercial laboratories.<h4>Results</h4>In individual 1, a pathogenic coding variant in a bra ...[more]