Before progressing from "exomes" to "genomes"… don't forget splicing variants

Eur J Hum Genet. 2018 Nov;26(11):1559-1562. doi: 10.1038/s41431-018-0214-3. Epub 2018 Jul 12.

Authors

Samiha S Shaikh¹, Michael S Nahorski¹, Harjeet Rai², C Geoffrey Woods³

Affiliations

¹ Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge, CB2 0XY, United Kingdom.
² East Anglian Medical Genetics Service, Genetics Laboratories, Addenbrooke's Treatment Centre, Cambridge University Hospitals, Hills Road, Cambridge, CB2 0QQ, United Kingdom.
³ Department of Medical Genetics, Cambridge Institute for Medical Research, Hills Road, Cambridge, CB2 0XY, United Kingdom. cw347@cam.ac.uk.

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Exome Sequencing / methods*
Exome Sequencing / standards
Genetic Testing / methods*
Genetic Testing / standards
Humans
RNA Splicing*

Grants and funding