Before progressing from "exomes" to "genomes"… don't forget splicing variants.
Published version
Peer-reviewed
Repository URI
Repository DOI
Change log
Authors
Shaikh, Samiha S
Nahorski, Michael S
Rai, Harjeet
Description
Keywords
Genetic Testing, Humans, RNA Splicing, Exome Sequencing
Journal Title
Eur J Hum Genet
Conference Name
Journal ISSN
1018-4813
1476-5438
1476-5438
Volume Title
26
Publisher
Springer Science and Business Media LLC
Publisher DOI
Sponsorship
Medical Research Council (MR/J012742/1)