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This Week in Nature: Sep 26, 2013

In Nature Genetics this week, two research groups present studies describing genomic alteration patterns for different tumor types. One team, led by Memorial-Sloan Kettering researchers, provided a hierarchical classification of 3,299 tumors from 12 cancer types from The Cancer Genome Atlas Pan-Cancer dataset. Notably, they identified a separation between tumors with primarily point mutations, which trigger changes in protein sequences, and those with primarily copy number alterations, in which the cell has an abnormal number of copies of one or several genomic regions. In the other paper, investigators from the Broad Institute and elsewhere characterized non-germline copy number alterations in 11 cancer types and 4,934 primary cancer specimens from the same dataset. They found whole-genome doubling in 37 percent of cancers, which was associated with higher rates of all non-germline copy number alterations.

Meanwhile, in Nature Methods, a group from the European Molecular Biology Laboratory describes a new approach for dealing with technical noise in single-cell RNA-sequencing experiments. The statistical method distinguishes between "true biological variability from the high levels of technical noise" in such experiments and quantifies the "statistical significance of observed cell-to-cell variability in expression strength on a gene-by-gene basis," the researchers say.

The Scan

Genetic Ancestry of South America's Indigenous Mapuche Traced

Researchers in Current Biology analyzed genome-wide data from more than five dozen Mapuche individuals to better understand their genetic history.

Study Finds Variants Linked to Diverticular Disease, Presents Polygenic Score

A new study in Cell Genomics reports on more than 150 genetic variants associated with risk of diverticular disease.

Mild, Severe Psoriasis Marked by Different Molecular Features, Spatial Transcriptomic Analysis Finds

A spatial transcriptomics paper in Science Immunology finds differences in cell and signaling pathway activity between mild and severe psoriasis.

ChatGPT Does As Well As Humans Answering Genetics Questions, Study Finds

Researchers in the European Journal of Human Genetics had ChatGPT answer genetics-related questions, finding it was about 68 percent accurate, but sometimes gave different answers to the same question.