[HTML][HTML] Non-additive genetic components contribute significantly to population-wide gene expression variation

A Tsouris, G Brach, J Schacherer, J Hou - Cell Genomics, 2024 - cell.com
Gene expression variation, an essential step between genotype and phenotype, is
collectively controlled by local (cis) and distant (trans) regulatory changes. Nevertheless …

Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells

AA Singh, DK Shetty, AG Jacob, S Bayraktar… - Frontiers in …, 2024 - frontiersin.org
Thoracic aortic disease (TAD) is often silent until a life-threatening complication occurs.
However, genetic information can inform both identification and treatment at an early stage …

[HTML][HTML] High-throughput functional analysis of regulatory variants using a massively parallel reporter assay

K Delfosse, C Gerhardinger, JL Rinn, PG Maass - STAR protocols, 2023 - Elsevier
Association studies describe genetic associations between noncoding variants and disease
susceptibility; however, they do not provide functional insight into the underlying molecular …