Our data support a highly generalizable model in which enhancer transcription is the earliest event in successive waves of transcriptional change during... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• April 2015

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

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• May 2020

We obtain a set of 57 candidate immediate early genes possessing promoters that consistently drive a rapid but transient increase in expression over time ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• August 2018

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.  ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2024
• January 2024

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. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

CAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• September 2016

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 ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2016
• May 2016

Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@ ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health
• Computational Biology

Timo Lassmann T BSc (Hons) MSc PhD Feilman Fellow; Program Head, Precision Health and Team Lead, Computational Biology timo.lassmann@ ...

• 1. Telethon Kids Institute
• Our research
• Chronic and Severe Diseases
• Precision Health
• Computational Biology