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Your search for “Mutations” returned 406 results

New Computer Program ‘Learns’ to Identify Mosaic Mutations That Cause Disease

January 2, 2023

UC San Diego researchers describe a method for teaching a computer how to spot complex “mosaic mutations” using an artificial intelligence approach termed “deep learning.”

New Algorithm Reveals Extremely High Mutations Rates in Complex Genomic Regions

August 16, 2023

In a paper published this week in the journal Nature Methods, UC San Diego researchers shared a new UniAligner algorithm for comparing highly repetitive genomic regions.

New algorithm can pinpoint mutations in large sections of the human genome

February 16, 2018

…accurately pinpoint, in large regions of the human genome, mutations favored by natural selection. The finding provides deeper insight into how evolution works, and ultimately could lead to better treatments for genetic disorders. For example, adaptation to chronic hypoxia at high altitude can suggest targets for cardiovascular and other ischemic…

Even DNA that Doesn’t Encode Genes Can Drive Cancer

April 2, 2018

…vast majority of genetic mutations associated with cancer occur in non-coding regions of the genome, yet it’s unclear how they may influence tumor development or growth. Researchers at University of California San Diego School of Medicine and Moores Cancer Center identified nearly 200 mutations in non-coding DNA that play a…

MicroRNA Specifically Kills Cancer Cells with Common Mutation

October 2, 2016

…all human cancers have mutations in a gene called KRAS. KRAS-mutant cancers are among the most difficult to treat, with poor survival and resistance to chemotherapy. Researchers at University of California San Diego School of Medicine and Moores Cancer Center used microRNAs to systematically inhibit thousands of other genes to…

Hope for Our Zebra

May 1, 2023

When alumni Michaelle Jinette and Kevin Witt’s fourth son Tristan was diagnosed with the rare KCNH1 genetic mutation, the couple raised money, collaborated with scientific partners, and initiated rare disease research on behalf of their child and the 50 others like him in the world.

Tumor Suppressor Mutations Alone Don’t Explain Deadly Cancer

August 3, 2014

Although mutations in a gene dubbed “the guardian of the genome” are widely recognized as being associated with more aggressive forms of cancer, researchers at the University of California, San Diego School of Medicine have found evidence suggesting that the deleterious health effects of the mutated gene may in large…

Hard to Study Mutations Implicated in the Expression of Genes Associated with Schizophrenia and More

November 5, 2019

Hard-to-study mutations in the human genome, called short tandem repeats, known as STRs or microsatellites, are implicated in the expression of genes associated with complex traits including schizophrenia, inflammatory bowel disease and even height and intelligence.

Clinical Study Suggests the Origin of Glioblastoma Subtypes

May 4, 2016

…finding provides an explanation for how the same cancer-causing mutation can give rise to different types of brain malignancies.

Genetic Mutations of Appendix Cancer Identified, May Impact Treatment

August 8, 2018

…study of this disease to date — to compare mutations present in both cancer types.

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