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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.

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.

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 Illumina HiSeq 2500 12
Publications Citations
Accurate and scalable variant calling from single cell DNA sequencing data with ProSolo.
Nat Commun 12: 2021 6744
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