The FANTOM5 cerebellum time series is a high-quality transcriptome database for functional investigation of gene regulatory networks in cerebellar development ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• September 2019

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

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

Identified romidepsin as a promising therapeutic for mixed lineage leukemia (MLL)-rearranged infant acute lymphoblastic leukemia ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2017
• January 2017

This study helps us understand how cancer cells are regulated by key genes and their corresponding networks to alter their fate in response to specific... ...

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

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

We identified numerous CpGs differentially methylated in relation to gestational age at birth that appear to reflect fetal developmental processes across tissues ...

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

Our results identify a pretreatment tumor microenvironment that predicts response to immune checkpoint blockade, which can be therapeutically attained ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• July 2019

Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner ...

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