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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.

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.

These results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment

We found no increased risk of poor development among boys with hypospadias or undescended testis

Here, we confirm four intercontinental species of avian trypanosomes in native Australian birds, and identify a new avian Trypanosoma.

Compared the in vitro susceptibility of two strains of Trypanosoma copemani and one strain of T. cruzi against drugs that show trypanocidal activity

We believe this data represents a useful resource to understand the central nervous system in macaque.

Combining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.

Our findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood

The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children