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Article
Open AccessLoss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a missense and a frameshift variant in a compound heterozygou...
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Article
Open AccessTransmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4
The evolutionary conserved Polo-like kinase 4 (PLK4) is essential for centriole duplication, spindle assembly, and de novo centriole formation. In man, homozygous mutations in PLK4 lead to primary microcephaly, a...
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Article
Open AccessIntegration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes
Structural variants are a common cause of disease and contribute to a large extent to inter-individual variability, but their detection and interpretation remain a challenge. Here, we investigate 11 individual...
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Article
Open AccessComplete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
During human organogenesis, lung development is a timely and tightly regulated developmental process under the control of a large number of signaling molecules. Understanding how genetic variants can disturb n...
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Article
Open AccessGenome sequencing in families with congenital limb malformations
The extensive clinical and genetic heterogeneity of congenital limb malformation calls for comprehensive genome-wide analysis of genetic variation. Genome sequencing (GS) has the potential to identify all gene...
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Article
Open AccessPHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice
Recently, several genome-wide association studies identified PHACTR1 as key locus for five diverse vascular disorders: coronary artery disease, migraine, fibromuscular dysplasia, cervical artery dissection and hy...
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Article
Open AccessInvestigating APOE, APP-Aβ metabolism genes and Alzheimer’s disease GWAS hits in brain small vessel ischemic disease
Alzheimer’s disease and small vessel ischemic disease frequently co-exist in the aging brain. However, pathogenic links between these 2 disorders are yet to be identified. Therefore we used Taqman genoty**, ...
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Article
Open AccessIdentification and ranking of recurrent neo-epitopes in cancer
Immune escape is one of the hallmarks of cancer and several new treatment approaches attempt to modulate and restore the immune system’s capability to target cancer cells. At the heart of the immune recognitio...
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Article
Open AccessMultisite de novo mutations in human offspring after paternal exposure to ionizing radiation
A genome-wide evaluation of the effects of ionizing radiation on mutation induction in the mouse germline has identified multisite de novo mutations (MSDNs) as marker for previous exposure. Here we present the re...
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Article
Next-generation diagnostics and disease-gene discovery with the Exomiser
This protocol describes use of the Exomiser suite, a collection of algorithms that allow for prioritization of genes and variants from exome sequencing data for disease-gene discovery.
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Article
Open AccessGenome alignment with graph data structures: a comparison
Recent advances in rapid, low-cost sequencing have opened up the opportunity to study complete genome sequences. The computational approach of multiple genome alignment allows investigation of evolutionarily r...
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Article
Open AccessA novel and well-defined benchmarking method for second generation read map**
Second generation sequencing technologies yield DNA sequence data at ultra high-throughput. Common to most biological applications is a map** of the reads to an almost identical or highly similar reference g...
