Gene–environment interactions and their impact on human health

SJ Virolainen, A VonHandorf, KCMF Viel… - Genes & …, 2023 - nature.com
The molecular processes underlying human health and disease are highly complex. Often,
genetic and environmental factors contribute to a given disease or phenotype in a non …

[PDF][PDF] Functional genomics and the future of iPSCs in disease modeling

IR Brooks, CM Garrone, C Kerins, CS Kiar, S Syntaka… - Stem cell reports, 2022 - cell.com
Induced pluripotent stem cells (iPSCs) are valuable in disease modeling because of their
potential to expand and differentiate into virtually any cell type and recapitulate key aspects …

The missing link between genetic association and regulatory function

NJ Connally, S Nazeen, D Lee, H Shi… - Elife, 2022 - elifesciences.org
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects

S Kasela, F Aguet, S Kim-Hellmuth, BC Brown… - The American Journal of …, 2024 - cell.com
Bulk-tissue molecular quantitative trait loci (QTLs) have been the starting point for
interpreting disease-associated variants, and context-specific QTLs show particular …

SEESAW: detecting isoform-level allelic imbalance accounting for inferential uncertainty

EY Wu, NP Singh, K Choi, M Zakeri, M Vincent… - Genome biology, 2023 - Springer
Detecting allelic imbalance at the isoform level requires accounting for inferential
uncertainty, caused by multi-mapping of RNA-seq reads. Our proposed method, SEESAW …

Transcription factor regulation of eQTL activity across individuals and tissues

ED Flynn, AL Tsu, S Kasela, S Kim-Hellmuth… - PLoS …, 2022 - journals.plos.org
Tens of thousands of genetic variants associated with gene expression (cis-eQTLs) have
been discovered in the human population. These eQTLs are active in various tissues and …

Functional characterization of genetic variant effects on expression

ED Flynn, T Lappalainen - Annual Review of Biomedical Data …, 2022 - annualreviews.org
Thousands of common genetic variants in the human population have been associated with
disease risk and phenotypic variation by genome-wide association studies (GWAS) …

Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population

K Rouskas, EA Katsareli, C Amerikanou… - BMC genomics, 2023 - Springer
Background Expression quantitative trait loci (eQTL) studies provide insights into regulatory
mechanisms underlying disease risk. Expanding studies of gene regulation to …

[HTML][HTML] Long noncoding RNAs in cardiovascular disease

A Kohlmaier, LM Holdt, D Teupser - Current opinion in cardiology, 2023 - journals.lww.com
Summary lncRNA research is passing the stage of enumerating lncRNAs or recording
simplified on-off expression switches. Mechanistic analyses are starting to reveal …

[HTML][HTML] Transcriptional changes associated with apoptosis and type I IFN underlie the early interaction between Besnoitia besnoiti tachyzoites and monocyte-derived …

M Fernández-Álvarez, P Horcajo… - International Journal for …, 2023 - Elsevier
Besnoitia besnoiti-infected bulls may develop severe systemic clinical signs and orchitis that
may ultimately cause sterility during the acute infection. Macrophages might play a relevant …