Dominik Seelow is fellow of the BIH Charité Clinician Scientist Program.
Paper of the MonthBIH Academy
APRIL 2022 - Disease-causing mutations in consanguineous families
In April 2022, Dominik Seelow received the Paper of the Month award.
Robin Steinhaus, Felix Boschann, Melanie Vogel, Björn Fischer-Zirnsak, Dominik Seelow, AutozygosityMapper: Identification of disease-mutations in consanguineous families, Nucleic Acids Research, Volume 50, Issue W1, 5 July 2022, Pages W83–W89, https://doi.org/10.1093/nar/gkac280
With the shift from SNP arrays to high-throughput sequencing, most researchers studying diseases in consanguineous families do not rely on linkage analysis any longer, but simply search for deleterious variants which are homozygous in all patients. AutozygosityMapper allows the fast and convenient identification of disease mutations in patients from consanguineous pedigrees by focussing on homozygous segments shared by all patients. Users can upload multi-sample VCF files, including WGS data, without any pre-processing. Genome-wide runs of homozygosity and the underlying genotypes are presented in graphical interfaces. AutozygosityMapper extends the functions of its predecessor, HomozygosityMapper, to the search for autozygous regions, in which all patients share the same homozygous genotype. We provide export of VCF files containing only the variants found in homozygous regions, this usually reduces the number of variants by two orders of magnitude. These regions can also directly be analysed with our disease mutation identification tool MutationDistiller. The application comes with simple and intuitive graphical interfaces for data upload, analysis, and results. We kept the structure of HomozygosityMapper so that previous users will find it easy to switch. With AutozygosityMapper, we provide a fast web-based way to identify disease mutations in consanguineous families. AutozygosityMapper is freely available at https://www.genecascade.org/AutozygosityMapper/.