February 16, 2018
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…
April 2, 2018
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…
October 2, 2016
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…
August 3, 2014
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…
November 5, 2019
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.
August 16, 2023
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.
May 4, 2016
May 4, 2016 —
…finding provides an explanation for how the same cancer-causing mutation can give rise to different types of brain malignancies.
August 8, 2018
August 8, 2018 —
…study of this disease to date — to compare mutations present in both cancer types.
January 2, 2023
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.”
April 29, 2014
April 29, 2014 —
…has found many somatic mutations – permanent changes in cells other than reproductive ones – that arose during the woman’s lifetime. Led by Erik Sistermans and Henne Holstege from the VU University Medical Center in Amsterdam, the team recently published its findings in the journal Genome Research as reported by…