Transcriptome-wide association studies: recent advances in methods, applications and available databases

J Mai, M Lu, Q Gao, J Zeng, J Xiao - Communications Biology, 2023 - nature.com
Genome-wide association study has identified fruitful variants impacting heritable traits.
Nevertheless, identifying critical genes underlying those significant variants has been a …

Non-linear machine learning models incorporating SNPs and PRS improve polygenic prediction in diverse human populations

M Elgart, G Lyons, S Romero-Brufau… - Communications …, 2022 - nature.com
Polygenic risk scores (PRS) are commonly used to quantify the inherited susceptibility for a
trait, yet they fail to account for non-linear and interaction effects between single nucleotide …

Protein prediction for trait mapping in diverse populations

R Schubert, E Geoffroy, I Gregga, AJ Mulford, F Aguet… - PLoS …, 2022 - journals.plos.org
Genetically regulated gene expression has helped elucidate the biological mechanisms
underlying complex traits. Improved high-throughput technology allows similar interrogation …

Transcriptomes of the tumor-adjacent normal tissues are more informative than tumors in predicting recurrence in colorectal cancer patients

J Kim, H Kim, MS Lee, H Lee, YJ Kim, WY Lee… - Journal of Translational …, 2023 - Springer
Background Previous investigations of transcriptomic signatures of cancer patient survival
and post-therapy relapse have focused on tumor tissue. In contrast, here we show that in …

Regulome‐wide association study identifies genetically driven accessible regions associated with pancreatic cancer risk

S Liu, H Zhong, J Zhu, Y Wu, Y Deng… - International Journal of …, 2024 - Wiley Online Library
Genome‐wide association studies (GWAS) have identified two dozen genetic variants that
are associated with the risk of pancreatic ductal adenocarcinoma (PDAC), a deadly …

[HTML][HTML] Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations

DS Araujo, C Nguyen, X Hu, AV Mikhaylova… - Human Genetics and …, 2023 - cell.com
Transcriptome prediction models built with data from European-descent individuals are less
accurate when applied to different populations because of differences in linkage …

Artificial Intelligence and Computational Biology in Gene Therapy: A Review

M Danaeifar, A Najafi - Biochemical Genetics, 2024 - Springer
One of the trending fields in almost all areas of science and technology is artificial
intelligence. Computational biology and artificial intelligence can help gene therapy in many …

Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines

M Saitou, A Dahl, Q Wang, X Liu - The American Journal of Human …, 2024 - cell.com
Population-level genetic studies are overwhelmingly biased toward European ancestries.
Transferring genetic predictions from European ancestries to other ancestries results in a …

Statistical power of transcriptome‐wide association studies

R He, H Xue, W Pan… - Genetic …, 2022 - Wiley Online Library
Abstract Transcriptome‐Wide Association Studies (TWASs) have become increasingly
popular in identifying genes (or other endophenotypes or exposures) associated with …

Accounting for nonlinear effects of gene expression identifies additional associated genes in transcriptome-wide association studies

Z Lin, H Xue, MM Malakhov… - Human molecular …, 2022 - academic.oup.com
Transcriptome-wide association studies (TWAS) integrate genome-wide association study
(GWAS) data with gene expression (GE) data to identify (putative) causal genes for complex …