Ontology highlight
ABSTRACT:
SUBMITTER: Kernohan KD
PROVIDER: S-EPMC5889109 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Kernohan Kristin D KD Frésard Laure L Zappala Zachary Z Hartley Taila T Smith Kevin S KS Wagner Justin J Xu Hongbin H McBride Arran A Bourque Pierre R PR Consortium Care Rare Canada CRC Bennett Steffany A L SAL Dyment David A DA Boycott Kym M KM Montgomery Stephen B SB Warman Chardon Jodi J
Human mutation 20170328 6
At least 15% of the disease-causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in noncoding regions. Whole-transcriptome sequencing is a promising new tool to identify these mutations; however, it will be a challenge to obtain disease-relevant tissue for RNA. Here, we describe an individual with a sporadic atypical spinal muscular atrophy, in whom clinical DNA sequencing reported ...[more]