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Technical Advance: Transcription factor, promoter, and enhancer utilization in human myeloid cells

The generation of myeloid cells from their progenitors is regulated at the level of transcription by combinatorial control of key transcription factors...

Gateways to the FANTOM5 promoter level mammalian expression atlas

The FANTOM5 project investigates transcription initiation activities in more than 1,000 human and mouse primary cells, cell lines and tissues using CAGE.

TagDust2: A generic method to extract reads from sequencing data.

Arguably the most basic step in the analysis of next generation sequencing data (NGS) involves the extraction of mappable reads from the raw reads...

Telomerase reverse transcriptase regulates microRNAs.

This study reports that telomerase reverse transcriptase extensively affects the expression levels of mature microRNAs.

Cellular and molecular changes to cortical neurons following low intensity repetitive magnetic stimulation at different frequencies

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies.

SAMStat 2: quality control for next generation sequencing data

SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions.

Reference exome data for Australian Aboriginal populations to support health-based research

Our data set provides a useful reference point for genomic studies on Aboriginal Australians

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Metagenomic Characterisation of the Gut Microbiome and Effect of Complementary Feeding on Bifidobacterium spp. in Australian Infants

Complementary feeding induces dramatic ecological shifts in the infant gut microbiota toward more diverse compositions and functional metabolic capacities, with potential implications for immune and metabolic health. The aim of this study was to examine whether the age at which solid foods are introduced differentially affects the microbiota in predominantly breastfed infants compared with predominantly formula-fed infants. 

Translational Intelligence

The aim of the Translational Intelligence team is to understand how individual bases in our genome predispose, alter and interact in normal and disease contexts.