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Researchers have begun to appreciate the importance of copy number variation when considering the connections between DNA and disease.

Most people have two copies of most genes. But some have only one copy, or three, or none. There have been hints that copy number variation (CNV) might range much more widely than zero to three, but such extremes have been hard to analyze in gene sequencing data.

Immuno-editing cancer cells

One of the great misconceptions about cancer is that, since tumors originate from normal cells, they are able to disguise themselves from the immune system—lurking undetected and unopposed as they divide and proliferate. In reality, the immune system is no passive observer when it comes to cancer. Evidence is mounting that many tumors undergo almost constant immune attack. But just how these attacks are initiated and what their effect is on different tumor types has remained largely unexplored. Until now.

Finding the causal genes at disease- and trait-associated loci is key to revealing biological insights from genome-wide association studies. , a team led by researchers from the Ó³»­´«Ã½ and Boston Children’s Hospital, along with Dutch colleagues, describe , a new computational tool that uses predicted gene functions to prioritize the most likely causal genes, highlight enriched pathways, and identify tissues and cell types associated with diseases and complex traits.

Recently , researchers reported on a new, high-throughput experimental method that, combined with massively parallel RNA sequencing and robust systems-level analyses, was used to characterize the transcriptome of three neuron populations in the neocortex. The team, which was led by researchers from the Ó³»­´«Ã½ and Harvard University’s Department of Stem Cell and Regenerative Biology, have made this transcriptome data available in an intuitive, web-based resource called .

Ó³»­´«Ã½ associate member Sridhar Ramaswamy led a study that identified a signaling pathway responsible for the generation of slowly proliferating cancer cells. Because they reproduce at a different rate than other cells that are targeted for treatment, these cancer cells can be hard to eradicate and difficult to detect, and they are thought to be a cause of disease relapse. You can in Molecular Cancer Research, or learn more in the  from the American Association for Cancer Research.