Tag: <span>de novo genetic mutations</span>

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Understanding how mutations affect diseases: Model looks beyond the ‘black box’ of genome-wide association studies

by Institute of Science and Technology Austria Traditional GWAS “black box”-like models use statistics to predict disease risk from genomes. Most diseases are polygenic, meaning many sites in the genome contribute towards disease risk, making it hard to pinpoint the underlying biological mechanisms. Credit: Natália Ružičková/ISTA Many statistical models and algorithms used by scientists can be...

Association found between de novo genetic mutations and obsessive-compulsive disorder
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Association found between de novo genetic mutations and obsessive-compulsive disorder

JANUARY 17, 2022 REPORT by Bob Yirka , Medical Xpress Fig. 1. Rate of DNMS across genomic regions. (A and B) Distribution of the per-individual rate of mutations within (A) different functional genomic regions and (B) different chromatin states. The P values represent the significance of differences in controls or patients with other diseases and were...