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Epigenetically regulated genes have a great theranostic potential, especially in tumors with no apparent driver mutations.
CAGE in combination with single-molecule sequencing technology allows mapping of TSSs and genome-wide capture of promoter activities state cell populations.
We hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
A comprehensive in depth gene expression/regulation profile in Mycobacterium tuberculosis-infected macrophages
Orm1 is induced in response to hepatic injury and executes liver regeneration by activating cell cycle progression in hepatocytes
Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
Epigenetic changes at the GFI1 were linked to smoking exposure in-utero/in-adulthood and robustly associated with cardio-metabolic risk factors
CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
Increases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
This data set provides a useful reference point for genomic studies on Aboriginal Australians