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Only 10 vaquita porpoises are left, but hope remains for their survival

Only 10 vaquita porpoises are left, but hope remains for their survival
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Only 10 vaquita porpoises are left, but hope remains for their survival

Only 10 vaquita porpoises are left, but hope remains for their survival
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Bioinformatic Study Underscores Contribution of Tandem Repeat Mutations in Autism

Bioinformatic Study Underscores Contribution of Tandem Repeat Mutations in Autism
January 14, 2021
The genomes of children affected by autism spectrum disorders (ASD) harbor significantly more damaging tandem repeat mutations that are not present in their parents’ genomes, a new study reports. Tandem repeats (TR) are sequences of two or more DNA base pairs repeated end to end on a chromosome.
The new study titled “
Nature, highlights the contributions of these understudied mutations in autism.
“Few researchers really study these repetitive regions because they’re generally non-coding they do not make proteins, their function is unclear, and they can be difficult to analyze,” says Melissa Gymrek, assistant professor in the University of California (UC) San Diego Department of Computer Science and Engineering and School of Medicine. “However, my lab has found these tandem repeats can influence gene expression, as well as the likelihood of developing ....

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Study finds neglected mutations may play important role in autism spectrum disorder

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Mutations that occur in certain DNA regions, called tandem repeats, may play a significant role in autism spectrum disorders, according to research led by Melissa Gymrek, assistant professor in the UC San Diego Department of Computer Science and Engineering and School of Medicine. The study, which was published in
Nature on Jan. 14, was co-authored by UCLA professor of human genetics Kirk Lohmueller and highlights the contributions these understudied mutations can make to disease.
Few researchers really study these repetitive regions because they re generally non-coding they do not make proteins; their function is unclear; and they can be difficult to analyze, said Gymrek. However, my lab has found these tandem repeats can influence gene expression, as well as the likelihood of developing certain conditions such as ASD. ....

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