The Exeter laboratory has been using exome sequencing since 2010 to identify novel disease genes (PMID 21820100, 22158542, 23770608 and 25038750) and diagnose rare genetic disorders (PMID 24961629 and 24459211).
We have used low coverage genome sequencing to characterise translocation and deletion breakpoints (PMID 24459211) and were the first group to identify variants in a novel regulatory element using genome sequencing (PMID 24212882).
Further details on our exome and genome sequencing services can be found by clicking on the links on the right.
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