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Article
Open AccessSystematic discovery of gene fusions in pediatric cancer by integrating RNA-seq and WGS
Gene fusions are important cancer drivers in pediatric cancer and their accurate detection is essential for diagnosis and treatment. Clinical decision-making requires high confidence and precision of detection...
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Article
Open Access1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans
Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Hu...
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Article
Open AccessStructural variant detection in cancer genomes: computational challenges and perspectives for precision oncology
Cancer is generally characterized by acquired genomic aberrations in a broad spectrum of types and sizes, ranging from single nucleotide variants to structural variants (SVs). At least 30% of cancers have a kn...
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Article
Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Prior to and following the publication of this article the authors noted that the complete list of authors was not included in the main article and was only present in Supplementary Table 1. The author list in...
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Article
Open AccessDose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia
Carriers of large recurrent copy number variants (CNVs) have a higher risk of develo** neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizoph...
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Article
Open AccessExome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies
Diagnosis of primary immunodeficiencies (PIDs) is complex and cumbersome yet important for the clinical management of the disease. Exome sequencing may provide a genetic diagnosis in a significant number of pa...
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Article
Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis
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Article
Open AccessA high-quality human reference panel reveals the complexity and distribution of genomic structural variants
Structural variation (SV) represents a major source of differences between individual human genomes and has been linked to disease phenotypes. However, the majority of studies provide neither a global view of ...
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Article
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer
Roland Kuiper and colleagues identify a homozygous germline nonsense mutation in the base-excision repair gene NTHL1 in three families with recessive inheritance of adenomatous polyposis.
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Article
Open AccessMobster: accurate detection of mobile element insertions in next generation sequencing data
Mobile elements are major drivers in changing genomic architecture and can cause disease. The detection of mobile elements is hindered due to the low mappability of their highly repetitive sequences. We have d...
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Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Evan Eichler and colleagues report an expanded copy number variation (CNV) morbidity map of developmental delay, with additional resequencing of candidate genes in regions implicated by large CNVs. They identi...
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Article
Genome sequencing identifies major causes of severe intellectual disability
Whole-genome sequencing is used to identify genetic alterations in patients with severe intellectual disability for whom all other tests, including array and exome sequencing, returned negative results; de novo s...
