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Dataset

Mutation and Microsatellite Burden Predict Response to PD-1 Inhibition in Children with Germline DNA Replication Repair Deficiency: An Observational Registry Study

Dataset ID	Technology	Samples
EGAD00001008036	Illumina HiSeq 2500,Illumina NovaSeq 6000	79

Dataset Description

This dataset contains raw data from polyA RNAseq, hybrid capture target TCR panel data, and bam files from whole exome sequencing on 39 tumors with matched germline blood.

Data Use Conditions

RS NPU IRB DS

See further information on Data Use Conditions

Label	Code	Version	Modifier
research specific restrictions	DUO:0000012	2019-01-07
not for profit, non commercial use only	DUO:0000018	2019-01-07
ethics approval required	DUO:0000021	2019-01-07
disease specific research	DUO:0000007	2019-01-07	MONDO:0010159

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Replication Repair Deficiency Data Access Committee
Contact person: Dr. Uri Tabori
Email: uri [dot] tabori [at] sickkids [dot] ca
More details: EGAC00001001936

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This dataset is featured in 2 studies

Studies are experimental investigations of a particular phenomenon. e.g. case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients. Click on one of the Study IDs below to find out more.

Study ID	Study Title	Study Type
EGAS00001004816	DNA polymerase and mismatch repair deficient cancers exert distinct genome-wide microsatellite signatures 2	Whole Genome Sequencing
EGAS00001005579	Mutation and Microsatellite Burden Predict Response to PD-1 Inhibition in Children with Germline DNA Replication Repair Deficiency: An Observational Registry Study	Cancer Genomics

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