Zeissig , Britt - Sabina Petersen ,

SUPPLEMENTARY MATERIALS Title Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen Authors:

Affiliation: 1 Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland 2 Institute of Computer Science, Warsaw University of Technology, Warsaw, Poland 3 Department of Medical Genetics, Institute of Mother and Child at Warsaw, Warsaw, Poland 4 Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany 5 Department of Immunology, Center of Biostructu...

Supplementary Figures

From next-generation sequencing alignments to accurate comparison and validation of single-nucleotide variants: the pibase software

Scientists working with single-nucleotide variants (SNVs), inferred by next-generation sequencing software, often need further information regarding true variants, artifacts and sequence coverage gaps. In clinical diagnostics, e.g. SNVs must usually be validated by visual inspection or several independent SNV-callers. We here demonstrate that 0.5-60% of relevant SNVs might not be detected due t...

Genetic Factors of the Disease Course After Sepsis: Rare Deleterious Variants Are Predictive

Sepsis is a life-threatening organ dysfunction caused by dysregulated host response to infection. For its clinical course, host genetic factors are important and rare genomic variants are suspected to contribute. We sequenced the exomes of 59 Greek and 15 German patients with bacterial sepsis divided into two groups with extremely different disease courses. Variant analysis was focusing on rare...

c.207C>G mutation in sepiapterin reductase causes autosomal dominant dopa-responsive dystonia

Objective To elucidate the genetic cause of an Egyptian family with dopa-responsive dystonia (DRD), a childhood-onset dystonia, responding therapeutically to levodopa, which is caused by mutations in various genes. Methods Rare variants in all coding exons of GCH1 were excluded by Sanger sequencing. Exome sequencing was applied for 1 unaffected and 2 affected family members. To investigate th...