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Karyotyping human chromosomes by combinatorial multi-fluor FISH
We have developed epifluorescence filter sets and computer software for the detection and discrimination of 27 different DNA probes hybridized simultaneously. For karyotype analysis, a pool of humanExpand
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Spatiotemporal dynamics of intratumoral immune cells reveal the immune landscape in human cancer.
The complex interactions between tumors and their microenvironment remain to be elucidated. Combining large-scale approaches, we examined the spatio-temporal dynamics of 28 different immune cellExpand
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Mutations in GNA11 in uveal melanoma.
BACKGROUND Uveal melanoma is the most common intraocular cancer. There are no effective therapies for metastatic disease. Mutations in GNAQ, the gene encoding an alpha subunit of heterotrimeric GExpand
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Three-Dimensional Maps of All Chromosomes in Human Male Fibroblast Nuclei and Prometaphase Rosettes
Studies of higher-order chromatin arrangements are an essential part of ongoing attempts to explore changes in epigenome structure and their functional implications during development and cellExpand
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A survey of tools for variant analysis of next-generation genome sequencing data
TLDR
We surveyed 205 tools for whole-genome/whole-exome sequencing data analysis supporting five distinct analytical steps: quality assessment, alignment, variant identification, variant annotation and visualization. Expand
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The new cytogenetics: blurring the boundaries with molecular biology
Exciting advances in fluorescence in situ hybridization and array-based techniques are changing the nature of cytogenetics, in both basic research and molecular diagnostics. Cytogenetic analysis nowExpand
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Germline mutations in BAP1 predispose to melanocytic tumors
Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describeExpand
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Defining 'chromosomal instability'.
Most scientists agree that the majority of human solid malignant tumors are characterized by chromosomal instability (CIN) involving gain or loss of whole chromosomes or fractions of chromosomes. CINExpand
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Comparative genomic hybridization, loss of heterozygosity, and DNA sequence analysis of single cells.
A PCR strategy is described for global amplification of DNA from a single eukaryotic cell that enables the comprehensive analysis of the whole genome. By comparative genomic hybridization, not onlyExpand
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Inheritance of gene density–related higher order chromatin arrangements in normal and tumor cell nuclei
A gene density–related difference in the radial arrangement of chromosome territories (CTs) was previously described for human lymphocyte nuclei with gene-poor CT #18 located toward the nuclearExpand
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