Variant identification in germline trio data

Germline variants are frequently associated with childhood cancer, and thus identifying and interpreting these genetic variants helps to understand these rare pediatric diseases. In cooperation with the Department of Pediatric Oncology, Hematology and Clinical Immunology of the University Hospital Düsseldorf and the Department of Pediatrics, Pediatric Hematology and Oncology of the University Hospital Carl Gustav Carus in Dresden, we analyze parent-child trio whole-exome sequencing data with a custom bioinformatics pipeline to identify transmitted and de-novo single-nucleotide variants and short insertions and deletions in the affected childrens' genomes with high precision and recall.

Contact: Dr. Carolin Walter