Identifying structural variation (SV) is essential for genome interpretation but has been historically difficult due to limitations inherent to available genome technologies. Detection …
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely observed in the general population. We explored the genes disrupted by these variants from …
LA Bergeron, S Besenbacher, J Zheng, P Li… - Nature, 2023 - nature.com
The germline mutation rate determines the pace of genome evolution and is an evolving parameter itself. However, little is known about what determines its evolution, as most …
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole- genome sequencing (WGS) data consented for public distribution without access or use …
During mammalian development, differences in chromatin state coincide with cellular differentiation and reflect changes in the gene regulatory landscape. In the developing brain …
Structural variants (SVs) rearrange large segments of DNA and can have profound consequences in evolution and human disease,. As national biobanks, disease-association …
M Cirnigliaro, TS Chang, SA Arteaga… - Proceedings of the …, 2023 - National Acad Sciences
Autism spectrum disorder (ASD) has a complex genetic architecture involving contributions from both de novo and inherited variation. Few studies have been designed to address the …
SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022 - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is increasingly providing new insights into the causes and mechanisms of this prevalent birth …
Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that regulate the same gene and drive overlapping expression patterns. Recent studies have …