Genetic Phenomena: News and Research on Genotype

MeSH tree: G05.380

Misfolded DNA blueprint: A new origin for genetic disease

Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the many causes of this disorder is having only one functional copy of the gene TBX5, rather than the ...

AI and polygenic scores improve breast cancer risk assessment

A risk model that combines a mammographic artificial intelligence (AI) risk score with polygenic and clinical risk scores more accurately identifies women at high risk of developing breast cancer than clinical risk scores ...

New open tool can facilitate the reuse of genomic data

The GCAT|Genomes for Life team, a strategic project of the Germans Trias i Pujol Research Institute (IGTP), has developed PolyGenie, a new tool designed to facilitate the exploration and reuse of genomic data by the research ...

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