Background The Critical Assessment of Functional Annotation (CAFA) is an ongoing, global,
community-driven effort to evaluate and improve the computational annotation of protein …

Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with
an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a …

A revolution is happening in genetics! The decoding of the first genome in 2003 was a large
international collaborative effort that took about 13 years at a cost of around $2.7 billion. Now…

We present AAI-profiler, a web server for exploratory analysis and quality control in comparative
genomics. AAI-profiler summarizes proteome-wide sequence search results to identify …

The M-type receptor for phospholipase A2 (PLA2R1) is the major target antigen in idiopathic
membranous nephropathy (iMN). Our recent genome-wide association study showed that …

Background/Aims: Calcium homeostasis requires regulated cellular and interstitial systems
interacting to modulate the activity and movement of this ion. Disruption of these systems in …

As high-throughput sequencing has become increasingly efficient, downstream analysis has
become the main bottleneck in genome sequencing projects. For example, a critical and …

… I, Alan John Medlar confirm that the work presented in this thesis is my own. Where information
has been derived from other sources, I confirm that this has been indicated in the thesis. …

Background Idiopathic membranous nephropathy is a major cause of the nephrotic syndrome
in adults, but its etiologic basis is not fully understood. We investigated the genetic basis of …

The importance of actin dynamics in the activation of the inflammasome is becoming increasingly
apparent. IL-1β, which is activated by the inflammasome, is known to be central to the …