Head, Genetics & Health ...

• 1. Telethon Kids Institute
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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 investigated the relationship between the sensitivity of hundreds of cell lines to hundreds of drugs, and the relative expression levels of the targets ...

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

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

Here, we present the production and quality control of CAGEscan libraries from 56 FANTOM5 RNA sources ...

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

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

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

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

Search our CDKL5 database Our Publications Wong K, Junaid M, Demarest S, Saldaris J, Benke TA, Marsh ED, Downs J and Leonard H. Factors influencing ...

• Rett syndrome and Related Disorders
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Otitis media (OM) is a common disease in early childhood characterised by inflammation of the middle ear. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2013
• January 2013