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Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
A researcher's work from 20 years ago has helped to crack one of biology’s biggest mysteries.
We evaluate a meta-taxonomic approach to determine the composition of prokaryotic and eukaryotic gut microflora using sequencing of 16S RNA and 18S rRNA
The regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation
Our data set provides a useful reference point for genomic studies on Aboriginal Australians
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adult
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically...
Otitis media (OM) is a common childhood disease characterised by middle ear inflammation following infection
We investigated the prevalence of UDT and examined rates of surgery and age at surgery in an Australian population.
Visceral leishmaniasis (VL) is caused by Leishmania donovani and Leishmania infantum chagasi. Genome-wide linkage studies from Sudan and Brazil identified...