Study

Benchmarking of ProSolo, a new probabilistic single nucleotide variant caller for single cell DNA sequencing data. This study provides the whole exome sequencing dataset used in this assessment.

Study ID Alternative Stable ID Type
EGAS00001004123 Other

Study Description

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). Here, we provide the newly generated whole exome sequencing data used in assessing ProSolo's performance. It contains whole exome sequencing of: a patient with a constitutional mismatch repair defect (MSH6-) and their parents and siblings, a granulocyte bulk sample and 5 single granulocytes sequenced after whole genome amplification.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

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 ... (Show More)
Illumina HiSeq 2500 12

Who archives the data?

There are no publications available