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Article
Open AccessTopographic analysis of pancreatic cancer by TMA and digital spatial profiling reveals biological complexity with potential therapeutic implications
Pancreatic ductal adenocarcinoma (PDAC) remains one of the most lethal human malignancies. Tissue microarrays (TMA) are an established method of high throughput biomarker interrogation in tissues but may not c...
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Protocol
Immunoglobulin/T Cell Receptor Capture Strategy for Comprehensive Immunogenetics
In the era of genomic medicine, targeted next generation sequencing strategies (NGS) are becoming increasingly adopted by clinical molecular diagnostic laboratories to identify genetic diagnostic and prognosti...
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Article
Open AccessLINE retrotransposons characterize mammalian tissue-specific and evolutionarily dynamic regulatory regions
To investigate the mechanisms driving regulatory evolution across tissues, we experimentally mapped promoters, enhancers, and gene expression in the liver, brain, muscle, and testis from ten diverse mammals.
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Article
Open AccessProteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia
Hyperdiploidy, i.e. gain of whole chromosomes, is one of the most common genetic features of childhood acute lymphoblastic leukemia (ALL), but its pathogenetic impact is poorly understood. Here, we report a pr...
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Article
Open AccessHi-C as a tool for precise detection and characterisation of chromosomal rearrangements and copy number variation in human tumours
Chromosomal rearrangements occur constitutionally in the general population and somatically in the majority of cancers. Detection of balanced rearrangements, such as reciprocal translocations and inversions, i...
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Protocol
Structural Variation and Its Effect on Expression
Structural variation, whether it is caused by copy number variants or present in a balanced form, such as reciprocal translocations and inversions, can have a profound and dramatic effect on the expression of ...
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Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Underweight and obese phenotypes can both pose health risks. But whereas obesity has been associated with a number of genetic variants, little is known about the genetic basis of underweight. A large-scale scr...
