Decoding disease: from genomes to networks to phenotypes

AK Wong, RSG Sealfon, CL Theesfeld… - Nature Reviews …, 2021 - nature.com
Interpreting the effects of genetic variants is key to understanding individual susceptibility to
disease and designing personalized therapeutic approaches. Modern experimental …

[HTML][HTML] Cross-species regulatory sequence activity prediction

DR Kelley - PLoS computational biology, 2020 - journals.plos.org
Machine learning algorithms trained to predict the regulatory activity of nucleic acid
sequences have revealed principles of gene regulation and guided genetic variation …

Bagging and boosting fine-tuning for ensemble learning

C Zhao, R Peng, D Wu - IEEE Transactions on Artificial …, 2023 - ieeexplore.ieee.org
Ensemble learning aggregates outputs from multiple base learners for better performance.
Bootstrap aggregating (bagging) and boosting are two popular such approaches. They are …

[HTML][HTML] Whole transcriptome–based skin virome profiling in typical epidermodysplasia verruciformis reveals α-, β-, and γ-HPV infections

AH Saeidian, L Youssefian, M Naji, H Mahmoudi… - JCI insight, 2023 - ncbi.nlm.nih.gov
HPVs are DNA viruses include approximately 450 types that are classified into 5 genera (α-,
β-, γ-, μ-, and ν-HPV). The γ-and β-HPVs are present in low copy numbers in healthy …

[HTML][HTML] SNP-to-gene linking strategies reveal contributions of enhancer-related and candidate master-regulator genes to autoimmune disease

KK Dey, S Gazal, B van de Geijn, SS Kim, J Nasser… - Cell genomics, 2022 - cell.com
We assess contributions to autoimmune disease of genes whose regulation is driven by
enhancer regions (enhancer-related) and genes that regulate other genes in trans …

BoostTree and BoostForest for ensemble learning

C Zhao, D Wu, J Huang, Y Yuan… - … on Pattern Analysis …, 2022 - ieeexplore.ieee.org
Bootstrap aggregating (Bagging) and boosting are two popular ensemble learning
approaches, which combine multiple base learners to generate a composite model for more …

[HTML][HTML] Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis

C Caetano da Silva, C Macias Trevino… - Communications …, 2024 - nature.com
Orofacial cleft (OFC) is a common human congenital anomaly. Epithelial-specific RNA
splicing regulators ESRP1 and ESRP2 regulate craniofacial morphogenesis and their …

Linking regulatory variants to target genes by integrating single-cell multiome methods and genomic distance

ER Dorans, K Jagadeesh, K Dey, AL Price - medRxiv, 2024 - medrxiv.org
Methods that analyze single-cell paired RNA-seq and ATAC-seq multiome data have shown
great promise in linking regulatory elements to genes. However, existing methods differ in …

[PDF][PDF] Unique contribution of enhancer-driven and master-regulator genes to autoimmune disease revealed using functionally informed SNP-to-gene linking …

KK Dey - Cold Spring Harbor Laboratory, 2020 - scholar.archive.org
Gene regulation is known to play a fundamental role in human disease, but mechanisms of
regulation vary greatly across genes. Here, we explore the contributions to disease of two …

Distinct pathway-based effects of blood pressure and body mass index on cardiovascular traits: comparison of novel Mendelian Randomization approaches

MK Sobczyk, TG Richardson, GM Leyden, TR Gaunt - medRxiv, 2023 - medrxiv.org
Background Mendelian randomization (MR) leverages genetic variants as instrumental
variables to determine causal relationships in epidemiology. However, challenges persist …