[PDF][PDF] A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin

CN Spracklen - Human Genetics and Genomics …, 2023 - scholarworks.umass.edu
Previous genome-wide association studies (GWASs) for adiponectin, a complex trait linked
to type 2 diabetes and obesity, identified> 20 associated loci. However, most loci were …

Imperfect gold standard gene sets yield inaccurate evaluation of causal gene identification methods

L Wang, X Wen, J Morrison - bioRxiv, 2023 - biorxiv.org
Causal gene discovery methods are often evaluated using gold-standard (GS) sets of causal
genes. However, GS gene sets are always incomplete, leading to mis-estimation of …

RNetDys: identification of disease-related impaired regulatory interactions due to SNPs

C Barlier, MM Ribeiro, S Jung, A del Sol - bioRxiv, 2022 - biorxiv.org
The dysregulation of regulatory mechanisms due to Single Nucleotide Polymorphisms
(SNPs) can lead to diseases and does not affect all cell (sub) types equally. Current …

Deep learning genome-wide genetics through biregular sparse decoder layer: deriving new disease genetic associations and disease risk predictions

M Gustafsson, S Dwivedi, S Hellberg, L Padyukov… - 2023 - researchsquare.com
Genomic biobanks provide valuable resources for studying how genetic variation affects
phenotypic differences and disease susceptibility, driving advancements in human health …

[PDF][PDF] Conflicts of interest: None to declare

JBG Walsh, AM Dahlin, JL Wiemels - 2023 - scholar.archive.org
Background: While recent sequencing studies have revealed that 10% of childhood gliomas
are caused by rare germline mutations, the role of common variants is undetermined and no …

Development of the PathWAS methodology integrating transcriptomics and proteomics to predict pathway functionality for the association with complex genetic traits

S May-Wilson - 2023 - era.ed.ac.uk
In the field of complex genetics, the use of genome wide association studies (GWAS) to
discover genetic variants associated with complex traits and disease has been extremely …

[PDF][PDF] Utilizing Statistical and Machine Learning Techniques to Improve Tools Identifying Genetic Basis Underlying Complex Traits

J Bian - 2023 - prism.ucalgary.ca
In genetic studies, understanding the genetic basis underlying complex traits takes center
stage. Modern high-throughput technologies have empowered researchers to generate …

Genetic and molecular characterisation of metabolic subphenotypes and their contribution to type 2 diabetes aetiology

A Williamson - 2023 - repository.cam.ac.uk
Systematic assessment of the genetic architecture of type 2 diabetes (T2D) has allowed the
identification of hundreds of genetic loci contributing to T2D risk. However, understanding …

RetroFun-RVS: a retrospective family-based framework for rare variant analysis incorporating functional annotations

L Mangnier, I Ruczinski, J Ricard, C Moreau, S Girard… - bioRxiv, 2022 - biorxiv.org
A large proportion of genetic variations involved in complex diseases are rare and located
within non-coding regions, making the interpretation of underlying biological mechanisms a …

Polimorfismos genéticos predictores de mortalidad asociada a shock séptico en pacientes sometidos a cirugía mayor

F Pérez García - 2023 - docta.ucm.es
La sepsis es un proceso patológico de respuesta desregulada a una infección. Los casos
graves de sepsis pueden desembocar en shock séptico, que se relaciona con una elevada …