ProSolo Benchmarking Data Access Committee - EGA European Genome-Phenome Archive

Dac ID	Contact Person	Email	Access Information
EGAC00001001468	Dr. Ute Fischer	ute [dot] fischer [at] med [dot] uni-duesseldorf [dot] de	No additional information is available

Dataset ID	Description	Technology	Samples
EGAD00001005929	This is the dataset used in the benchmarking of ProSolo, a new probabilistic single nucleotide variant caller for single cell DNA sequencing data that provides control over the false discovery rate of different single cell events at genomic sites (e.g. alternative allele presence or allele dropout). It provides the whole exome sequencing data used in assessing ProSolo's performance that is not available elsewhere, namely bulk whole exome sequencing data of a patient with a constitutional mismatch repair defect (MSH6-) and their parents and siblings, a bulk whole exome sample of granulocytes from that patient and 5 single granulocytes whole exome sequenced after whole genome amplification.	Illumina HiSeq 2500	12

Dataset ID

Description

Technology

Samples

EGAD00001005929

This is the dataset used in the benchmarking of ProSolo, a new probabilistic single nucleotide variant caller for single cell DNA sequencing data that provides control over the false discovery rate of different single cell events at genomic sites (e.g. alternative allele presence or allele dropout). It provides the whole exome sequencing data used in assessing ProSolo's performance that is not available elsewhere, namely bulk whole exome sequencing data of a patient with a constitutional mismatch repair defect (MSH6-) and their parents and siblings, a bulk whole exome sample of granulocytes from that patient and 5 single granulocytes whole exome sequenced after whole genome amplification.

Illumina HiSeq 2500

DAC

This DAC controls 1 dataset:

The European Genome-phenome Archive (EGA) is part of the ELIXIR infrastructure.