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Diploid's Diagnosed

Diploid has launched Diagnosed, a new clinical interpretation service for rare disease diagnostics based on whole-genome sequencing data. The service, priced at $699, targets variants associated with intellectual disabilities, dysmorphisms, metabolic conditions, blindness, and deafness. If it's tools cannot identify a SNP or structural variant in the sample, Diploid will not charge for its service. 

The company has also added a new tool for copy number variation detection to its portfolio that it claims is about 80x more sensitive than traditional array CGH tests and more cost-effective.

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.