Amina Noor

This study identifies DNA sequence variants that influence 3D chromatin conformation and links them to gene expression and disease risk.

This study identifies a large number of structural variants in human genomes using multiple sequencing technologies and presents them as a gold standard for future studies.

The paper identifies 1.2 million structural variants in 235 individuals, showing high de novo mutation diversity and complex mutation clusters, but finds no increased genome rearrangement rate for ASD.