5 Result(s)
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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 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
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
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
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...
